A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14298987



Internal ID4300803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122917874..122918922hg38UCSC Ensembl
Innerchr11:122917875..122918922hg38UCSC Ensembl
Outerchr11:122917874..122918923hg38UCSC Ensembl
chr11:122788582..122789630hg19UCSC Ensembl
Innerchr11:122788583..122789630hg19UCSC Ensembl
Outerchr11:122788582..122789631hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627950
Supporting Variants
SamplesHG03175
Known GenesC11orf63
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14298987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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