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dbVar

Database of genomic structural variation

esv29977

Organism: Homo sapiens

Study:estd22 (Levy et al. 2007)
Variant Type:copy number variation
Method Type:Oligo aCGH, SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:13,485

Publication(s):Levy 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: 802 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):140,843,471-140,856,955

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv29977	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	140,843,471	140,856,955
esv29977	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000005.9	Chr5	140,223,056	140,236,540
esv29977	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775428.1	Chr5\|NW_00 4775428.1	78,647	92,131
esv29977	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	140,203,240	140,216,724

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv84216	copy number gain	HuRef	Oligo aCGH, SNP array	Probe signal intensity, SNP genotyping analysis	780,358

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv84216	Remapped	Perfect	NC_000005.10:g.(?_ 140843471)_(140856 955_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,843,471	140,856,955
essv84216	Remapped	Perfect	NW_004775428.1:g.( ?_78647)_(92131_?) dup	GRCh37.p13	First Pass	NW_004775428.1	Chr5\|NW_00 4775428.1	78,647	92,131
essv84216	Remapped	Perfect	NC_000005.9:g.(?_1 40223056)_(1402365 40_?)dup	GRCh37.p13	Second Pass	NC_000005.9	Chr5	140,223,056	140,236,540
essv84216	Submitted genomic		NC_000005.8:g.(?_1 40203240)_(1402167 24_?)dup	NCBI36 (hg18)		NC_000005.8	Chr5	140,203,240	140,216,724

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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