A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009406



Internal ID2856300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49512155..49520853hg38UCSC Ensembl
Innerchr3:49512155..49520853hg38UCSC Ensembl
Outerchr3:49511655..49521353hg38UCSC Ensembl
chr3:49549588..49558286hg19UCSC Ensembl
Innerchr3:49549588..49558286hg19UCSC Ensembl
Outerchr3:49549088..49558786hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388699
hg198699
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596127
Supporting Variants
SamplesHG02522
Known GenesDAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009406
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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