A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14308938



Internal ID4310754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128890799..128892879hg38UCSC Ensembl
Innerchr11:128890824..128892854hg38UCSC Ensembl
Outerchr11:128890774..128892904hg38UCSC Ensembl
chr11:128760694..128762774hg19UCSC Ensembl
Innerchr11:128760719..128762749hg19UCSC Ensembl
Outerchr11:128760669..128762799hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382081
hg192081
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628051
Supporting Variants
SamplesNA20814
Known GenesKCNJ5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14308938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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