A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14179636



Internal ID4181452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62451001..62451528hg38UCSC Ensembl
Innerchr11:62451001..62451528hg38UCSC Ensembl
Outerchr11:62450615..62451963hg38UCSC Ensembl
chr11:62218473..62219000hg19UCSC Ensembl
Innerchr11:62218473..62219000hg19UCSC Ensembl
Outerchr11:62218087..62219435hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626607
Supporting Variants
SamplesHG00277
Known GenesAHNAK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14179636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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