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dbVar

Database of genomic structural variation

esv34222

Organism: Homo sapiens

Study:estd55 (Pinto et al. 2007)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:259,388

Description:Sample level SV from stringent call set
Publication(s):Pinto et al. 2007

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 994 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):36,082,519-36,341,906

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv34222	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	36,082,519	36,341,906
esv34222	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	36,309,662	36,569,049
esv34222	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	36,221,313	36,480,700

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6978997	copy number loss	NA12814	SNP array	SNP genotyping analysis	36
essv6988084	copy number loss	NA12814	SNP array	SNP genotyping analysis	36
essv6988083	copy number loss	NA12814	SNP array	SNP genotyping analysis	36
essv6989058	copy number loss	NA12814	SNP array	SNP genotyping analysis	36
essv6978996	copy number loss	NA12814	SNP array	SNP genotyping analysis	36

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6978997	Remapped	Pass	NW_003315908.1:g.( ?_27452)_(143390_? )del	GRCh38.p12	Second Pass	NW_003315908.1	Chr2\|NW_00 3315908.1	27,452	143,390
essv6988084	Remapped	Pass	NW_003315908.1:g.( ?_27487)_(143390_? )del	GRCh38.p12	Second Pass	NW_003315908.1	Chr2\|NW_00 3315908.1	27,487	143,390
essv6988083	Remapped	Perfect	NC_000002.12:g.(?_ 36082519)_(3633830 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,082,519	36,338,307
essv6989058	Remapped	Perfect	NC_000002.12:g.(?_ 36125971)_(3632282 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,125,971	36,322,823
essv6978996	Remapped	Perfect	NC_000002.12:g.(?_ 36126006)_(3632280 6_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,126,006	36,322,806
essv6988084	Remapped	Perfect	NC_000002.12:g.(?_ 36127862)_(3634187 1_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,127,862	36,341,871
essv6978997	Remapped	Perfect	NC_000002.12:g.(?_ 36127906)_(3634190 6_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,127,906	36,341,906
essv6978997	Remapped	Pass	NW_003315908.1:g.( ?_27452)_(143390_? )del	GRCh37.p13	Second Pass	NW_003315908.1	Chr2\|NW_00 3315908.1	27,452	143,390
essv6988084	Remapped	Pass	NW_003315908.1:g.( ?_27487)_(143390_? )del	GRCh37.p13	Second Pass	NW_003315908.1	Chr2\|NW_00 3315908.1	27,487	143,390
essv6988083	Remapped	Perfect	NC_000002.11:g.(?_ 36309662)_(3656545 0_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,309,662	36,565,450
essv6989058	Remapped	Perfect	NC_000002.11:g.(?_ 36353114)_(3654996 6_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,353,114	36,549,966
essv6978996	Remapped	Perfect	NC_000002.11:g.(?_ 36353149)_(3654994 9_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,353,149	36,549,949
essv6988084	Remapped	Perfect	NC_000002.11:g.(?_ 36355005)_(3656901 4_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,355,005	36,569,014
essv6978997	Remapped	Perfect	NC_000002.11:g.(?_ 36355049)_(3656904 9_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,355,049	36,569,049
essv6988083	Submitted genomic		NC_000002.9:g.(?_3 6221313)_(36477101 _?)del	NCBI35 (hg17)		NC_000002.9	Chr2	36,221,313	36,477,101
essv6989058	Submitted genomic		NC_000002.9:g.(?_3 6264765)_(36461617 _?)del	NCBI35 (hg17)		NC_000002.9	Chr2	36,264,765	36,461,617
essv6978996	Submitted genomic		NC_000002.9:g.(?_3 6264800)_(36461600 _?)del	NCBI35 (hg17)		NC_000002.9	Chr2	36,264,800	36,461,600
essv6988084	Submitted genomic		NC_000002.9:g.(?_3 6266656)_(36480665 _?)del	NCBI35 (hg17)		NC_000002.9	Chr2	36,266,656	36,480,665
essv6978997	Submitted genomic		NC_000002.9:g.(?_3 6266700)_(36480700 _?)del	NCBI35 (hg17)		NC_000002.9	Chr2	36,266,700	36,480,700

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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