A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14308953



Internal ID3520504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129037298..129038869hg38UCSC Ensembl
Innerchr11:129037298..129038869hg38UCSC Ensembl
Outerchr11:129037009..129039112hg38UCSC Ensembl
chr11:128907193..128908764hg19UCSC Ensembl
Innerchr11:128907193..128908764hg19UCSC Ensembl
Outerchr11:128906904..128909007hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628054
Supporting Variants
SamplesHG03118
Known GenesARHGAP32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14308953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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