A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568096



Internal ID6890993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84589636..84590409hg38UCSC Ensembl
Innerchr2:84589636..84590409hg38UCSC Ensembl
Outerchr2:84589431..84590638hg38UCSC Ensembl
chr2:84816760..84817533hg19UCSC Ensembl
Innerchr2:84816760..84817533hg19UCSC Ensembl
Outerchr2:84816555..84817762hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591517
Supporting Variants
SamplesNA21105
Known GenesDNAH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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