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dbVar

Database of genomic structural variation

esv19273

Organism: Homo sapiens

Study:estd20 (Conrad et al. 2009)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:52,784

Publication(s):Conrad et al. 2009

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: 1746 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):142,041,807-142,094,590

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv19273	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	142,041,807	142,094,590
esv19273	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187562.1	Chr7\|NT_18 7562.1	3,687	56,470
esv19273	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000007.13	Chr7	141,741,607	141,794,390
esv19273	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003571040.1	Chr7\|NW_00 3571040.1	183,758	236,541
esv19273	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	141,388,076	141,440,859

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv50770	copy number loss	NA11931	Oligo aCGH	Probe signal intensity	1,027

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv50770	Remapped	Perfect	NT_187562.1:g.(?_3 687)_(56470_?)del	GRCh38.p12	Second Pass	NT_187562.1	Chr7\|NT_18 7562.1	3,687	56,470
essv50770	Remapped	Perfect	NC_000007.14:g.(?_ 142041807)_(142094 590_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	142,041,807	142,094,590
essv50770	Remapped	Perfect	NW_003571040.1:g.( ?_183758)_(236541_ ?)del	GRCh37.p13	First Pass	NW_003571040.1	Chr7\|NW_00 3571040.1	183,758	236,541
essv50770	Remapped	Perfect	NC_000007.13:g.(?_ 141741607)_(141794 390_?)del	GRCh37.p13	Second Pass	NC_000007.13	Chr7	141,741,607	141,794,390
essv50770	Submitted genomic		NC_000007.12:g.(?_ 141388076)_(141440 859_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	141,388,076	141,440,859

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv50770	2	NA11931	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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