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dbVar

Database of genomic structural variation

esv3690542

Organism: Homo sapiens

Study:estd220 (Pettigrew et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:140,415

Publication(s):Pettigrew et al. 2015

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: 464 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):81,961,370-82,101,784

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv3690542	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	81,961,370	81,961,370	82,088,055	82,101,784
esv3690542	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	82,188,494	82,188,494	82,315,179	82,328,908

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16504849	duplication	TD-10	SNP array	SNP genotyping analysis	44

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv16504849	Remapped	Perfect	NC_000002.12:g.(81 961370_81961370)_( 82088055_82101784) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	81,961,370	81,961,370	82,088,055	82,101,784
essv16504849	Submitted genomic		NC_000002.11:g.(82 188494_82188494)_( 82315179_82328908) dup126685	GRCh37 (hg19)		NC_000002.11	Chr2	82,188,494	82,188,494	82,315,179	82,328,908

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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