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dbVar

Database of genomic structural variation

esv1834332

Organism: Homo sapiens

Study:estd188 (Pinto et al. 2011)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:19,921

Publication(s):Pinto et al. 2011

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: 749 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):140,844,251-140,864,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv1834332	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	140,844,251	140,864,171
esv1834332	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000005.9	Chr5	140,223,836	140,243,756
esv1834332	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775428.1	Chr5\|NW_00 4775428.1	79,427	99,347
esv1834332	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	140,204,020	140,223,940

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4427916	copy number loss	NA10851	SNP array	SNP genotyping analysis	9,157

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv4427916	Remapped	Perfect	NC_000005.10:g.(?_ 140844251)_(140864 171_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,844,251	140,864,171
essv4427916	Remapped	Perfect	NW_004775428.1:g.( ?_79427)_(99347_?) del	GRCh37.p13	First Pass	NW_004775428.1	Chr5\|NW_00 4775428.1	79,427	99,347
essv4427916	Remapped	Perfect	NC_000005.9:g.(?_1 40223836)_(1402437 56_?)del	GRCh37.p13	Second Pass	NC_000005.9	Chr5	140,223,836	140,243,756
essv4427916	Submitted genomic		NC_000005.8:g.(?_1 40204020)_(1402239 40_?)del	NCBI36 (hg18)		NC_000005.8	Chr5	140,204,020	140,223,940

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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