A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14253635



Internal ID4255451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102397022..102398271hg38UCSC Ensembl
Innerchr11:102397080..102398214hg38UCSC Ensembl
Outerchr11:102396965..102398329hg38UCSC Ensembl
chr11:102267753..102269002hg19UCSC Ensembl
Innerchr11:102267811..102268945hg19UCSC Ensembl
Outerchr11:102267696..102269060hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627526
Supporting Variants
SamplesHG00672
Known GenesTMEM123
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14253635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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