estd211 - Campbell et al 2014 - dbVar Study

estd211 (Campbell et al. 2014)

Organism:: Human
Study Type:: Case-Set
Submitter:: Ian Campbell
Description:: Prospective analysis of 100 deletion CNVs to detect somatic mosaicism in parents of children with genomic deletions. See Variant Summary counts for estd211 in dbVar Variant Summary.
Publication(s):: Campbell et al. 2014

Links

Source: NCBI

Detailed Information: Download 100 Variant Regions, Download 100 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

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

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.11	Chr1	11	11	Remapped	NC_000001.11
NC_000002.12	Chr2	10	10	Remapped	NC_000002.12
NC_000003.12	Chr3	6	6	Remapped	NC_000003.12
NC_000004.12	Chr4	8	8	Remapped	NC_000004.12
NC_000005.10	Chr5	6	6	Remapped	NC_000005.10
NC_000006.12	Chr6	6	6	Remapped	NC_000006.12
NC_000007.14	Chr7	2	2	Remapped	NC_000007.14
NC_000008.11	Chr8	4	4	Remapped	NC_000008.11
NC_000009.12	Chr9	8	8	Remapped	NC_000009.12
NC_000010.11	Chr10	4	4	Remapped	NC_000010.11
NC_000011.10	Chr11	5	5	Remapped	NC_000011.10
NC_000012.12	Chr12	5	5	Remapped	NC_000012.12
NC_000013.11	Chr13	3	3	Remapped	NC_000013.11
NC_000014.9	Chr14	6	6	Remapped	NC_000014.9
NC_000015.10	Chr15	2	2	Remapped	NC_000015.10
NC_000016.10	Chr16	3	3	Remapped	NC_000016.10
NC_000017.11	Chr17	4	4	Remapped	NC_000017.11
NC_000018.10	Chr18	2	2	Remapped	NC_000018.10
NC_000019.10	Chr19	1	1	Remapped	NC_000019.10
NC_000021.9	Chr21	1	1	Remapped	NC_000021.9
NC_000023.11	ChrX	3	3	Remapped	NC_000023.11
NW_018654718.1	Chr12\|NW_018654718.1	1	1	Remapped	NW_018654718.1

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.10	Chr1	11	11	Submitted	NC_000001.10
NC_000002.11	Chr2	10	10	Submitted	NC_000002.11
NC_000003.11	Chr3	6	6	Submitted	NC_000003.11
NC_000004.11	Chr4	8	8	Submitted	NC_000004.11
NC_000005.9	Chr5	6	6	Submitted	NC_000005.9
NC_000006.11	Chr6	6	6	Submitted	NC_000006.11
NC_000007.13	Chr7	2	2	Submitted	NC_000007.13
NC_000008.10	Chr8	4	4	Submitted	NC_000008.10
NC_000009.11	Chr9	8	8	Submitted	NC_000009.11
NC_000010.10	Chr10	4	4	Submitted	NC_000010.10
NC_000011.9	Chr11	5	5	Submitted	NC_000011.9
NC_000012.11	Chr12	5	5	Submitted	NC_000012.11
NC_000013.10	Chr13	3	3	Submitted	NC_000013.10
NC_000014.8	Chr14	6	6	Submitted	NC_000014.8
NC_000015.9	Chr15	2	2	Submitted	NC_000015.9
NC_000016.9	Chr16	3	3	Submitted	NC_000016.9
NC_000017.10	Chr17	4	4	Submitted	NC_000017.10
NC_000018.9	Chr18	2	2	Submitted	NC_000018.9
NC_000019.9	Chr19	1	1	Submitted	NC_000019.9
NC_000021.8	Chr21	1	1	Submitted	NC_000021.8
NC_000023.10	ChrX	3	3	Submitted	NC_000023.10

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_000001.10	Chr1	11	8	3	0	0	0	11	8	3	0	0	0
NC_000002.11	Chr2	10	9	1	0	0	0	10	9	1	0	0	0
NC_000003.11	Chr3	6	5	1	0	0	0	6	5	1	0	0	0
NC_000004.11	Chr4	8	7	1	0	0	0	8	7	1	0	0	0
NC_000005.9	Chr5	6	6	0	0	0	0	6	6	0	0	0	0
NC_000006.11	Chr6	6	4	2	0	0	0	6	4	2	0	0	0
NC_000007.13	Chr7	2	1	1	0	0	0	2	1	1	0	0	0
NC_000008.10	Chr8	4	3	1	0	0	0	4	3	1	0	0	0
NC_000009.11	Chr9	8	8	0	0	0	0	8	8	0	0	0	0
NC_000010.10	Chr10	4	4	0	0	0	0	4	4	0	0	0	0
NC_000011.9	Chr11	5	5	0	0	0	0	5	5	0	0	0	0
NC_000012.11	Chr12	5	3	1	0	0	1	5	3	1	0	0	1
NC_000013.10	Chr13	3	3	0	0	0	0	3	3	0	0	0	0
NC_000014.8	Chr14	6	6	0	0	0	0	6	6	0	0	0	0
NC_000015.9	Chr15	2	2	0	0	0	0	2	2	0	0	0	0
NC_000016.9	Chr16	3	3	0	0	0	0	3	3	0	0	0	0
NC_000017.10	Chr17	4	4	0	0	0	0	4	4	0	0	0	0
NC_000018.9	Chr18	2	2	0	0	0	0	2	2	0	0	0	0
NC_000019.9	Chr19	1	1	0	0	0	0	1	1	0	0	0	0
NC_000021.8	Chr21	1	1	0	0	0	0	1	1	0	0	0	0
NC_000023.10	ChrX	3	3	0	0	0	0	3	3	0	0	0	0

Samplesets

Number of Samplesets: 1

Sampleset Type:: Case
Description:: Randomly selected patients with interstitial non-recurrent genomic deletions.
Size:: 100
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Samples for sampleset 1
Sample ID	Subject ID	Subject Phenotype
Samp70	Sub70	Not reported
Samp43	Sub43	Not reported
Samp58	Sub58	Not reported
Samp19	Sub19	Not reported
Samp11	Sub11	Not reported
Samp100	Sub100	Not reported
Samp76	Sub76	Not reported
Samp30	Sub30	Not reported
Samp26	Sub26	Not reported
Samp75	Sub75	Not reported
Samp61	Sub61	Not reported
Samp85	Sub85	Not reported
Samp67	Sub67	Not reported
Samp99	Sub99	Not reported
Samp97	Sub97	Not reported
Samp64	Sub64	Not reported
Samp23	Sub23	Not reported
Samp16	Sub16	Not reported
Samp77	Sub77	Not reported
Samp86	Sub86	Not reported
Samp46	Sub46	Not reported
Samp44	Sub44	Not reported
Samp71	Sub71	Not reported
Samp91	Sub91	Not reported
Samp66	Sub66	Not reported
Samp83	Sub83	Not reported
Samp72	Sub72	Not reported
Samp39	Sub39	Not reported
Samp92	Sub92	Not reported
Samp73	Sub73	Not reported
Samp42	Sub42	Not reported
Samp41	Sub41	Not reported
Samp14	Sub14	Not reported
Samp96	Sub96	Not reported
Samp95	Sub95	Not reported
Samp37	Sub37	Not reported
Samp49	Sub49	Not reported
Samp55	Sub55	Not reported
Samp45	Sub45	Not reported
Samp5	Sub5	Not reported
Samp22	Sub22	Not reported
Samp18	Sub18	Not reported
Samp33	Sub33	Not reported
Samp51	Sub51	Not reported
Samp29	Sub29	Not reported
Samp98	Sub98	Not reported
Samp89	Sub89	Not reported
Samp60	Sub60	Not reported
Samp82	Sub82	Not reported
Samp63	Sub63	Not reported
Samp47	Sub47	Not reported
Samp3	Sub3	Not reported
Samp81	Sub81	Not reported
Samp62	Sub62	Not reported
Samp69	Sub69	Not reported
Samp57	Sub57	Not reported
Samp1	Sub1	Not reported
Samp17	Sub17	Not reported
Samp25	Sub25	Not reported
Samp35	Sub35	Not reported
Samp94	Sub94	Not reported
Samp9	Sub9	Not reported
Samp54	Sub54	Not reported
Samp88	Sub88	Not reported
Samp6	Sub6	Not reported
Samp90	Sub90	Not reported
Samp7	Sub7	Not reported
Samp12	Sub12	Not reported
Samp93	Sub93	Not reported
Samp59	Sub59	Not reported
Samp28	Sub28	Not reported
Samp48	Sub48	Not reported
Samp10	Sub10	Not reported
Samp2	Sub2	Not reported
Samp40	Sub40	Not reported
Samp84	Sub84	Not reported
Samp50	Sub50	Not reported
Samp87	Sub87	Not reported
Samp24	Sub24	Not reported
Samp38	Sub38	Not reported
Samp79	Sub79	Not reported
Samp74	Sub74	Not reported
Samp20	Sub20	Not reported
Samp21	Sub21	Not reported
Samp34	Sub34	Not reported
Samp4	Sub4	Not reported
Samp65	Sub65	Not reported
Samp15	Sub15	Not reported
Samp27	Sub27	Not reported
Samp68	Sub68	Not reported
Samp36	Sub36	Not reported
Samp31	Sub31	Not reported
Samp56	Sub56	Not reported
Samp78	Sub78	Not reported
Samp32	Sub32	Not reported
Samp8	Sub8	Not reported
Samp52	Sub52	Not reported
Samp53	Sub53	Not reported
Samp80	Sub80	Not reported
Samp13	Sub13	Not reported

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	Sequencing	Manual observation	Sanger Sequencing	100

dbVar

Database of genomic structural variation

estd211 (Campbell et al. 2014)

Links

Detailed Information: Download 100 Variant Regions, Download 100 Variant Calls, Download Both, FTP

Variant Summary

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

Variant Summary for:

Remapping summary:

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

No validation data were submitted for this study.

dbVar

Database of genomic structural variation

estd211 (Campbell et al. 2014)

Links

Detailed Information: Download 100 Variant Regions, Download 100 Variant Calls, Download Both, FTP

Variant Summary

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

Remapping summary: GRCh37->GRCh38.p12

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

No validation data were submitted for this study.

Variant Summary for:

Remapping summary: