A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009355



Internal ID1011171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49036118..49038320hg38UCSC Ensembl
Innerchr3:49036118..49038320hg38UCSC Ensembl
Outerchr3:49036004..49038342hg38UCSC Ensembl
chr3:49073551..49075753hg19UCSC Ensembl
Innerchr3:49073551..49075753hg19UCSC Ensembl
Outerchr3:49073437..49075775hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382203
hg192203
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596118
Supporting Variants
SamplesNA19788
Known GenesQRICH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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