estd196 - Simon-Sanchez et al 2006 - dbVar Study

estd196 (Simon-Sanchez et al. 2006)

Organism:: Human
Study Type:: Control Set
Submitter:: Database of Genomic Variants
Description:: The recent hapmap effort has placed focus on the application of genome-wide SNP analysis to assess the contribution of genetic variability, particularly SNPs, to traits such as disease. Here, we describe the utility of genome-wide SNP analysis in the direct detection of extended homozygosity and structural genomic variation. We use this approach to assess the frequency of genomic alterations resulting from the lymphoblast immortalization and culture processes commonly used in cell repositories. We have assayed 408 804 SNPs in 276 DNA samples extracted from Epstein-Barr virus immortalized cell lines, which were derived from lymphocytes of elderly neurologically normal subjects. These data reveal extended homozygosity (contiguous tracts >5 Mb) in 9.5% (26/272) and 340 structural genomic alterations in 182 (66.9%) DNA samples assessed, 66% of which did not overlap with previously described structural variations. Examination of DNA extracted directly from the blood of 30 of these subjects confirmed all examined instances of extended homozygosity (6/6), 75% of structural genomic alteration <5 Mb in size (12/16) and 13% (1/8) of structural genomic alteration >5 Mb in size. These data suggest that structural genomic variation is a common phenomenon in the general population. While a proportion of this variability may be caused or its relative abundance altered by the immortalization and clonal process this will have only a minor effect on genotype and allele frequencies in a large cohort. It is likely that this powerful methodology will augment existing techniques in the identification of chromosomal abnormalities. See Variant Summary counts for estd196 in dbVar Variant Summary.
Publication(s):: Simon-Sanchez et al. 2006

Links

Source: NCBI

Detailed Information: Download 335 Variant Regions, Download 335 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI35 (hg17)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.11	Chr1	10	10	Remapped	NC_000001.11
NC_000002.12	Chr2	8	8	Remapped	NC_000002.12
NC_000003.12	Chr3	17	17	Remapped	NC_000003.12
NC_000004.12	Chr4	7	7	Remapped	NC_000004.12
NC_000005.10	Chr5	13	13	Remapped	NC_000005.10
NC_000006.12	Chr6	28	28	Remapped	NC_000006.12
NC_000007.14	Chr7	23	23	Remapped	NC_000007.14
NC_000008.11	Chr8	16	16	Remapped	NC_000008.11
NC_000009.12	Chr9	17	17	Remapped	NC_000009.12
NC_000010.11	Chr10	10	10	Remapped	NC_000010.11
NC_000011.10	Chr11	13	13	Remapped	NC_000011.10
NC_000012.12	Chr12	38	38	Remapped	NC_000012.12
NC_000013.11	Chr13	9	9	Remapped	NC_000013.11
NC_000014.9	Chr14	10	10	Remapped	NC_000014.9
NC_000015.10	Chr15	10	10	Remapped	NC_000015.10
NC_000016.10	Chr16	9	9	Remapped	NC_000016.10
NC_000017.11	Chr17	8	8	Remapped	NC_000017.11
NC_000018.10	Chr18	7	7	Remapped	NC_000018.10
NC_000019.10	Chr19	16	16	Remapped	NC_000019.10
NC_000020.11	Chr20	4	4	Remapped	NC_000020.11
NC_000021.9	Chr21	2	2	Remapped	NC_000021.9
NC_000022.11	Chr22	30	30	Remapped	NC_000022.11
NC_000023.11	ChrX	4	4	Remapped	NC_000023.11
NT_167246.2	Chr6\|NT_167246.2	2	2	Remapped	NT_167246.2
NT_167247.2	Chr6\|NT_167247.2	2	2	Remapped	NT_167247.2
NT_167248.2	Chr6\|NT_167248.2	2	2	Remapped	NT_167248.2
NT_167249.2	Chr6\|NT_167249.2	2	2	Remapped	NT_167249.2
NT_167245.2	Chr6\|NT_167245.2	2	2	Remapped	NT_167245.2
NT_113891.3	Chr6\|NT_113891.3	2	2	Remapped	NT_113891.3
NT_187561.1	Chr7\|NT_187561.1	1	1	Remapped	NT_187561.1
NW_018654714.1	Chr7\|NW_018654714.1	1	1	Remapped	NW_018654714.1
NT_187576.1	Chr8\|NT_187576.1	4	4	Remapped	NT_187576.1
NW_018654717.1	Chr8\|NW_018654717.1	1	1	Remapped	NW_018654717.1
NT_187600.1	Chr14\|NT_187600.1	1	1	Remapped	NT_187600.1
NT_187660.1	Chr15\|NT_187660.1	5	5	Remapped	NT_187660.1
NW_011332701.1	Chr15\|NW_011332701.1	5	5	Remapped	NW_011332701.1
NW_019805503.1	Chr18\|NW_019805503.1	1	1	Remapped	NW_019805503.1
NT_187693.1	Chr19\|NT_187693.1	6	6	Remapped	NT_187693.1
NW_003571061.2	Chr19\|NW_003571061.2	6	6	Remapped	NW_003571061.2
NW_003571060.1	Chr19\|NW_003571060.1	6	6	Remapped	NW_003571060.1
NW_003571054.1	Chr19\|NW_003571054.1	6	6	Remapped	NW_003571054.1
NT_187629.1	Chr22\|NT_187629.1	1	1	Remapped	NT_187629.1

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.10	Chr1	10	10	Remapped	NC_000001.10
NC_000002.11	Chr2	8	8	Remapped	NC_000002.11
NC_000003.11	Chr3	17	17	Remapped	NC_000003.11
NC_000004.11	Chr4	7	7	Remapped	NC_000004.11
NC_000005.9	Chr5	13	13	Remapped	NC_000005.9
NC_000006.11	Chr6	28	28	Remapped	NC_000006.11
NC_000007.13	Chr7	23	23	Remapped	NC_000007.13
NC_000008.10	Chr8	16	16	Remapped	NC_000008.10
NC_000009.11	Chr9	17	17	Remapped	NC_000009.11
NC_000010.10	Chr10	10	10	Remapped	NC_000010.10
NC_000011.9	Chr11	13	13	Remapped	NC_000011.9
NC_000012.11	Chr12	38	38	Remapped	NC_000012.11
NC_000013.10	Chr13	9	9	Remapped	NC_000013.10
NC_000014.8	Chr14	10	10	Remapped	NC_000014.8
NC_000015.9	Chr15	10	10	Remapped	NC_000015.9
NC_000016.9	Chr16	9	9	Remapped	NC_000016.9
NC_000017.10	Chr17	8	8	Remapped	NC_000017.10
NC_000018.9	Chr18	7	7	Remapped	NC_000018.9
NC_000019.9	Chr19	16	16	Remapped	NC_000019.9
NC_000020.10	Chr20	4	4	Remapped	NC_000020.10
NC_000021.8	Chr21	2	2	Remapped	NC_000021.8
NC_000022.10	Chr22	30	30	Remapped	NC_000022.10
NC_000023.10	ChrX	4	4	Remapped	NC_000023.10
NT_113891.2	Chr6\|NT_113891.2	2	2	Remapped	NT_113891.2
NT_167245.1	Chr6\|NT_167245.1	2	2	Remapped	NT_167245.1
NT_167246.1	Chr6\|NT_167246.1	2	2	Remapped	NT_167246.1
NT_167247.1	Chr6\|NT_167247.1	2	2	Remapped	NT_167247.1
NT_167248.1	Chr6\|NT_167248.1	2	2	Remapped	NT_167248.1
NT_167249.1	Chr6\|NT_167249.1	2	2	Remapped	NT_167249.1
NW_003571042.1	Chr8\|NW_003571042.1	4	4	Remapped	NW_003571042.1
NW_004166863.1	Chr14\|NW_004166863.1	2	2	Remapped	NW_004166863.1
NW_003571053.2	Chr19\|NW_003571053.2	1	1	Remapped	NW_003571053.2
NW_004070893.1	ChrX\|NW_004070893.1	1	1	Remapped	NW_004070893.1

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.8	Chr1	10	10	Submitted	NC_000001.8
NC_000002.9	Chr2	8	8	Submitted	NC_000002.9
NC_000003.9	Chr3	17	17	Submitted	NC_000003.9
NC_000004.9	Chr4	7	7	Submitted	NC_000004.9
NC_000005.8	Chr5	13	13	Submitted	NC_000005.8
NC_000006.9	Chr6	28	28	Submitted	NC_000006.9
NC_000007.11	Chr7	23	23	Submitted	NC_000007.11
NC_000008.9	Chr8	16	16	Submitted	NC_000008.9
NC_000009.9	Chr9	17	17	Submitted	NC_000009.9
NC_000010.8	Chr10	36	36	Submitted	NC_000010.8
NC_000011.8	Chr11	13	13	Submitted	NC_000011.8
NC_000012.9	Chr12	38	38	Submitted	NC_000012.9
NC_000013.9	Chr13	9	9	Submitted	NC_000013.9
NC_000014.7	Chr14	10	10	Submitted	NC_000014.7
NC_000015.8	Chr15	10	10	Submitted	NC_000015.8
NC_000016.8	Chr16	9	9	Submitted	NC_000016.8
NC_000017.9	Chr17	8	8	Submitted	NC_000017.9
NC_000018.8	Chr18	7	7	Submitted	NC_000018.8
NC_000019.8	Chr19	16	16	Submitted	NC_000019.8
NC_000020.9	Chr20	4	4	Submitted	NC_000020.9
NC_000021.7	Chr21	2	2	Submitted	NC_000021.7
NC_000022.8	Chr22	30	30	Submitted	NC_000022.8
NC_000023.8	ChrX	4	4	Submitted	NC_000023.8

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000001.8	Chr1	10	9	0	1	0	0	10	9	0	1	0	0
NC_000002.9	Chr2	8	7	1	0	0	0	8	7	1	0	0	0
NC_000003.9	Chr3	17	17	0	0	0	0	17	17	0	0	0	0
NC_000004.9	Chr4	7	7	0	0	0	0	7	7	0	0	0	0
NC_000005.8	Chr5	13	12	1	0	0	0	13	12	1	0	0	0
NC_000006.9	Chr6	28	24	1	1	0	2	28	24	1	1	0	2
NC_000007.11	Chr7	23	21	1	1	0	0	23	21	1	1	0	0
NC_000008.9	Chr8	16	12	0	0	0	4	16	12	0	0	0	4
NC_000009.9	Chr9	17	17	0	0	0	0	17	17	0	0	0	0
NC_000010.8	Chr10	36	10	0	0	26	0	36	10	0	0	26	0
NC_000011.8	Chr11	13	13	0	0	0	0	13	13	0	0	0	0
NC_000012.9	Chr12	38	37	0	1	0	0	38	37	0	1	0	0
NC_000013.9	Chr13	9	9	0	0	0	0	9	9	0	0	0	0
NC_000014.7	Chr14	10	8	0	0	0	2	10	8	0	0	0	2
NC_000015.8	Chr15	10	9	1	0	0	0	10	9	1	0	0	0
NC_000016.8	Chr16	9	9	0	0	0	0	9	9	0	0	0	0
NC_000017.9	Chr17	8	7	0	1	0	0	8	7	0	1	0	0
NC_000018.8	Chr18	7	7	0	0	0	0	7	7	0	0	0	0
NC_000019.8	Chr19	16	10	0	5	0	1	16	10	0	5	0	1
NC_000020.9	Chr20	4	3	0	1	0	0	4	3	0	1	0	0
NC_000021.7	Chr21	2	2	0	0	0	0	2	2	0	0	0	0
NC_000022.8	Chr22	30	30	0	0	0	0	30	30	0	0	0	0
NC_000023.8	ChrX	4	2	0	1	0	1	4	2	0	1	0	1

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000001.8	Chr1	10	8	1	1	0	0	10	8	1	1	0	0
NC_000002.9	Chr2	8	6	2	0	0	0	8	6	2	0	0	0
NC_000003.9	Chr3	17	16	1	0	0	0	17	16	1	0	0	0
NC_000004.9	Chr4	7	7	0	0	0	0	7	7	0	0	0	0
NC_000005.8	Chr5	13	11	2	0	0	0	13	11	2	0	0	0
NC_000006.9	Chr6	28	24	1	1	0	2	28	24	1	1	0	2
NC_000007.11	Chr7	23	18	1	2	0	2	23	18	1	2	0	2
NC_000008.9	Chr8	16	11	0	0	0	5	16	11	0	0	0	5
NC_000009.9	Chr9	17	17	0	0	0	0	17	17	0	0	0	0
NC_000010.8	Chr10	36	10	0	0	26	0	36	10	0	0	26	0
NC_000011.8	Chr11	13	13	0	0	0	0	13	13	0	0	0	0
NC_000012.9	Chr12	38	36	2	0	0	0	38	36	2	0	0	0
NC_000013.9	Chr13	9	7	2	0	0	0	9	7	2	0	0	0
NC_000014.7	Chr14	10	7	2	0	0	1	10	7	2	0	0	1
NC_000015.8	Chr15	10	3	2	0	0	5	10	3	2	0	0	5
NC_000016.8	Chr16	9	9	0	0	0	0	9	9	0	0	0	0
NC_000017.9	Chr17	8	7	1	0	0	0	8	7	1	0	0	0
NC_000018.8	Chr18	7	6	0	0	0	1	7	6	0	0	0	1
NC_000019.8	Chr19	16	9	1	0	0	6	16	9	1	0	0	6
NC_000020.9	Chr20	4	3	0	1	0	0	4	3	0	1	0	0
NC_000021.7	Chr21	2	1	1	0	0	0	2	1	1	0	0	0
NC_000022.8	Chr22	30	9	20	0	0	1	30	9	20	0	0	1
NC_000023.8	ChrX	4	4	0	0	0	0	4	4	0	0	0	0

Samplesets

Number of Samplesets: 1

Name:: NINDS
Description:: A publicly available cohort of neurologically normal caucasian individuals aged 55 to 88 years, and collected from several sites across North America.
Size:: 272
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported
Sex:: Unknown

Samples for sampleset 1 (displaying 100 of the 272 samples)
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Age	Subject Phenotype
ND00728	B-Lymphocyte	ND00728	Male	Caucasian	62 Years	Not reported
ND02214	B-Lymphocyte	ND02214	Female	Caucasian	58 Years	Not reported
ND00674	B-Lymphocyte	ND00674	Male	Caucasian	80 Years	Not reported
ND00727	B-Lymphocyte	ND00727	Female	Caucasian	74 Years	Not reported
ND01887	B-Lymphocyte	ND01887	Female	Caucasian	63 Years	Not reported
ND02553	B-Lymphocyte	ND02553	Female	Caucasian	75 Years	Not reported
ND01684	B-Lymphocyte	ND01684	Male	Caucasian	88 Years	Not reported
ND01672	B-Lymphocyte	ND01672	Male	Caucasian	80 Years	Not reported
ND02652	B-Lymphocyte	ND02652	Male	Caucasian	68 Years	Not reported
ND01757	B-Lymphocyte	ND01757	Male	Caucasian	57 Years	Not reported
ND03096	B-Lymphocyte	ND03096	Female	Caucasian	79 Years	Not reported
ND00723	B-Lymphocyte	ND00723	Female	Caucasian	64 Years	Not reported
ND01708	B-Lymphocyte	ND01708	Female	Caucasian	77 Years	Not reported
ND03123	B-Lymphocyte	ND03123	Male	Caucasian	68 Years	Not reported
ND03047	B-Lymphocyte	ND03047	Female	Caucasian	73 Years	Not reported
ND01630	B-Lymphocyte	ND01630	Female	Caucasian	73 Years	Not reported
ND01354	B-Lymphocyte	ND01354	Male	Caucasian	80 Years	Not reported
ND00700	B-Lymphocyte	ND00700	Female	Caucasian	74 Years	Not reported
ND00709	B-Lymphocyte	ND00709	Female	Caucasian	72 Years	Not reported
ND01562	B-Lymphocyte	ND01562	Female	Caucasian	86 Years	Not reported
ND01754	B-Lymphocyte	ND01754	Male	Caucasian	72 Years	Not reported
ND03463	B-Lymphocyte	ND03463	Male	Caucasian	76 Years	Not reported
ND01690	B-Lymphocyte	ND01690	Female	Caucasian	81 Years	Not reported
ND01525	B-Lymphocyte	ND01525	Female	Caucasian	61 Years	Not reported
ND01496	B-Lymphocyte	ND01496	Male	Caucasian	75 Years	Not reported
ND01583	B-Lymphocyte	ND01583	Male	Caucasian	86 Years	Not reported
ND01217	B-Lymphocyte	ND01217	Female	Caucasian	69 Years	Not reported
ND01569	B-Lymphocyte	ND01569	Male	Caucasian	75 Years	Not reported
ND01577	B-Lymphocyte	ND01577	Female	Caucasian	84 Years	Not reported
ND01424	B-Lymphocyte	ND01424	Female	Caucasian	76 Years	Not reported
ND01548	B-Lymphocyte	ND01548	Male	Caucasian	79 Years	Not reported
ND01660	B-Lymphocyte	ND01660	Female	Caucasian	88 Years	Not reported
ND01692	B-Lymphocyte	ND01692	Female	Caucasian	84 Years	Not reported
ND01566	B-Lymphocyte	ND01566	Female	Caucasian	75 Years	Not reported
ND03357	B-Lymphocyte	ND03357	Male	Caucasian	65 Years	Not reported
ND01705	B-Lymphocyte	ND01705	Male	Caucasian	78 Years	Not reported
ND00745	B-Lymphocyte	ND00745	Male	Caucasian	55 Years	Not reported
ND02256	B-Lymphocyte	ND02256	Male	Caucasian	66 Years	Not reported
ND01688	B-Lymphocyte	ND01688	Female	Caucasian	83 Years	Not reported
ND01565	B-Lymphocyte	ND01565	Female	Caucasian	78 Years	Not reported
ND02862	B-Lymphocyte	ND02862	Female	Caucasian	75 Years	Not reported
ND03071	B-Lymphocyte	ND03071	Female	Caucasian	67 Years	Not reported
ND01944	B-Lymphocyte	ND01944	Male	Caucasian	68 Years	Not reported
ND01666	B-Lymphocyte	ND01666	Female	Caucasian	81 Years	Not reported
ND01582	B-Lymphocyte	ND01582	Female	Caucasian	72 Years	Not reported
ND00706	B-Lymphocyte	ND00706	Female	Caucasian	64 Years	Not reported
ND02645	B-Lymphocyte	ND02645	Female	Caucasian	63 Years	Not reported
ND01701	B-Lymphocyte	ND01701	Male	Caucasian	85 Years	Not reported
ND03628	B-Lymphocyte	ND03628	Male	Caucasian	74 Years	Not reported
ND03401	B-Lymphocyte	ND03401	Male	Caucasian	76 Years	Not reported
ND03627	B-Lymphocyte	ND03627	Male	Caucasian	69 Years	Not reported
ND00528	B-Lymphocyte	ND00528	Male	Caucasian	75 Years	Not reported
ND03510	B-Lymphocyte	ND03510	Female	Caucasian	60 Years	Not reported
ND03231	B-Lymphocyte	ND03231	Male	Caucasian	56 Years	Not reported
ND01527	B-Lymphocyte	ND01527	Female	Caucasian	76 Years	Not reported
ND01659	B-Lymphocyte	ND01659	Female	Caucasian	76 Years	Not reported
ND02760	B-Lymphocyte	ND02760	Female	Caucasian	60 Years	Not reported
ND02258	B-Lymphocyte	ND02258	Male	Caucasian	68 Years	Not reported
ND02405	B-Lymphocyte	ND02405	Female	Caucasian	67 Years	Not reported
ND01700	B-Lymphocyte	ND01700	Female	Caucasian	83 Years	Not reported
ND02212	B-Lymphocyte	ND02212	Female	Caucasian	74 Years	Not reported
ND01567	B-Lymphocyte	ND01567	Female	Caucasian	83 Years	Not reported
ND01675	B-Lymphocyte	ND01675	Female	Caucasian	80 Years	Not reported
ND03355	B-Lymphocyte	ND03355	Male	Caucasian	63 Years	Not reported
ND01679	B-Lymphocyte	ND01679	Male	Caucasian	84 Years	Not reported
ND00714	B-Lymphocyte	ND00714	Female	Caucasian	58 Years	Not reported
ND01676	B-Lymphocyte	ND01676	Male	Caucasian	78 Years	Not reported
ND01277	B-Lymphocyte	ND01277	Female	Caucasian	68 Years	Not reported
ND01588	B-Lymphocyte	ND01588	Male	Caucasian	79 Years	Not reported
ND01493	B-Lymphocyte	ND01493	Female	Caucasian	72 Years	Not reported
ND01840	B-Lymphocyte	ND01840	Male	Caucasian	60 Years	Not reported
ND03403	B-Lymphocyte	ND03403	Male	Caucasian	62 Years	Not reported
ND01670	B-Lymphocyte	ND01670	Male	Caucasian	88 Years	Not reported
ND01702	B-Lymphocyte	ND01702	Female	Caucasian	86 Years	Not reported
ND01934	B-Lymphocyte	ND01934	Female	Caucasian	59 Years	Not reported
ND00412	B-Lymphocyte	ND00412	Male	Caucasian	77 Years	Not reported
ND01695	B-Lymphocyte	ND01695	Female	Caucasian	84 Years	Not reported
ND01613	B-Lymphocyte	ND01613	Female	Caucasian	77 Years	Not reported
ND01220	B-Lymphocyte	ND01220	Male	Caucasian	74 Years	Not reported
ND01693	B-Lymphocyte	ND01693	Female	Caucasian	76 Years	Not reported
ND01885	B-Lymphocyte	ND01885	Male	Caucasian	71 Years	Not reported
ND03527	B-Lymphocyte	ND03527	Unknown	Caucasian		Not reported
ND03522	B-Lymphocyte	ND03522	Unknown	Caucasian		Not reported
ND01552	B-Lymphocyte	ND01552	Female	Caucasian	86 Years	Not reported
ND01703	B-Lymphocyte	ND01703	Female	Caucasian	68 Years	Not reported
ND03532	B-Lymphocyte	ND03532	Female	Caucasian	76 Years	Not reported
ND02296	B-Lymphocyte	ND02296	Female	Caucasian	65 Years	Not reported
ND00940	B-Lymphocyte	ND00940	Male	Caucasian	75 Years	Not reported
ND00672	B-Lymphocyte	ND00672	Female	Caucasian	77 Years	Not reported
ND01938	B-Lymphocyte	ND01938	Male	Caucasian	70 Years	Not reported
ND03406	B-Lymphocyte	ND03406	Female	Caucasian	83 Years	Not reported
ND01678	B-Lymphocyte	ND01678	Female	Caucasian	83 Years	Not reported
ND01570	B-Lymphocyte	ND01570	Female	Caucasian	75 Years	Not reported
ND01674	B-Lymphocyte	ND01674	Male	Caucasian	80 Years	Not reported
ND03587	B-Lymphocyte	ND03587	Female	Caucasian	70 Years	Not reported
ND01580	B-Lymphocyte	ND01580	Male	Caucasian	73 Years	Not reported
ND01205	B-Lymphocyte	ND01205	Female	Caucasian	71 Years	Not reported
ND00665	B-Lymphocyte	ND00665	Male	Caucasian	62 Years	Not reported
ND03102	B-Lymphocyte	ND03102	Male	Caucasian	78 Years	Not reported
ND00679	B-Lymphocyte	ND00679	Male	Caucasian	71 Years	Not reported

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	SNP array	SNP genotyping analysis	GEO:GPL6979, GEO:GPL8864	335
2	Validation	qPCR	Other	Applied Biosystems TaqMan	3

Validations

Experiment ID	Method	Analysis	Platform	Number of Variant Calls Validated
2	qPCR	Other	Applied Biosystems TaqMan	3

dbVar

Database of genomic structural variation

estd196 (Simon-Sanchez et al. 2006)

Links

Detailed Information: Download 335 Variant Regions, Download 335 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38.p12 (hg38)GRCh37.p13 (hg19)NCBI35 (hg17)

Remapping summary: NCBI35->GRCh37.p13NCBI35->GRCh38.p12

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

Variant Summary for:

Remapping summary: