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dbVar

Database of genomic structural variation

esv2504900

Organism: Homo sapiens

Study:estd197 (McKernan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

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

Description:originalFile=Yoruban_small_indel.gff
Publication(s):McKernan 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: 9 SVs from 1 studies. See in: genome view

Remapped(Score: Perfect):13,751-13,751

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2504900	Remapped	Perfect	GRCh38.p12	non-nuclear	First Pass	NC_012920.1	ChrMT	13,751	13,751
esv2504900	Remapped	Perfect	GRCh37.p13	non-nuclear	First Pass	NC_012920.1	ChrMT	13,751	13,751
esv2504900	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_001807.4	ChrMT	13,752	13,752

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5279108	deletion	NA18507	Sequencing	Split read mapping	232,775

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5279108	Remapped	Perfect	NC_012920.1:g.1375 1del	GRCh38.p12	First Pass	NC_012920.1	ChrMT	13,751	13,751
essv5279108	Remapped	Perfect	NC_012920.1:g.1375 1del	GRCh37.p13	First Pass	NC_012920.1	ChrMT	13,751	13,751
essv5279108	Submitted genomic		NC_001807.4:g.1375 2del	NCBI36 (hg18)		NC_001807.4	ChrMT	13,752	13,752

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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