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dbVar

Database of genomic structural variation

esv35041

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:310,846

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: 1265 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):71,910,057-72,220,902

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv35041	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	71,910,057	72,220,902
esv35041	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	69,577,293	69,888,137
esv35041	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000018.8	Chr18	67,728,273	68,039,117

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6978356	copy number loss	NA19007	SNP array	SNP genotyping analysis	32
essv6987378	copy number loss	NA19007	SNP array	SNP genotyping analysis	32
essv6978357	copy number loss	NA19007	SNP array	SNP genotyping analysis	32
essv6978358	copy number loss	NA19007	SNP array	SNP genotyping analysis	32
essv6987379	copy number loss	NA19007	SNP array	SNP genotyping analysis	32

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6978356	Remapped	Perfect	NC_000018.10:g.(?_ 71910057)_(7221519 4_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	71,910,057	72,215,194
essv6987378	Remapped	Perfect	NC_000018.10:g.(?_ 71910057)_(7222090 2_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	71,910,057	72,220,902
essv6978357	Remapped	Perfect	NC_000018.10:g.(?_ 71910084)_(7221518 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	71,910,084	72,215,185
essv6978358	Remapped	Perfect	NC_000018.10:g.(?_ 71919786)_(7219412 0_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	71,919,786	72,194,120
essv6987379	Remapped	Perfect	NC_000018.10:g.(?_ 71953584)_(7219408 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	71,953,584	72,194,085
essv6978356	Remapped	Perfect	NC_000018.9:g.(?_6 9577293)_(69882429 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	69,577,293	69,882,429
essv6987378	Remapped	Perfect	NC_000018.9:g.(?_6 9577293)_(69888137 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	69,577,293	69,888,137
essv6978357	Remapped	Perfect	NC_000018.9:g.(?_6 9577320)_(69882420 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	69,577,320	69,882,420
essv6978358	Remapped	Perfect	NC_000018.9:g.(?_6 9587022)_(69861355 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	69,587,022	69,861,355
essv6987379	Remapped	Perfect	NC_000018.9:g.(?_6 9620820)_(69861320 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	69,620,820	69,861,320
essv6978356	Submitted genomic		NC_000018.8:g.(?_6 7728273)_(68033409 _?)del	NCBI35 (hg17)		NC_000018.8	Chr18	67,728,273	68,033,409
essv6987378	Submitted genomic		NC_000018.8:g.(?_6 7728273)_(68039117 _?)del	NCBI35 (hg17)		NC_000018.8	Chr18	67,728,273	68,039,117
essv6978357	Submitted genomic		NC_000018.8:g.(?_6 7728300)_(68033400 _?)del	NCBI35 (hg17)		NC_000018.8	Chr18	67,728,300	68,033,400
essv6978358	Submitted genomic		NC_000018.8:g.(?_6 7738002)_(68012335 _?)del	NCBI35 (hg17)		NC_000018.8	Chr18	67,738,002	68,012,335
essv6987379	Submitted genomic		NC_000018.8:g.(?_6 7771800)_(68012300 _?)del	NCBI35 (hg17)		NC_000018.8	Chr18	67,771,800	68,012,300

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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