A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14179702



Internal ID4181518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62492487..62497387hg38UCSC Ensembl
Innerchr11:62492487..62497387hg38UCSC Ensembl
Outerchr11:62492182..62497576hg38UCSC Ensembl
chr11:62259959..62264859hg19UCSC Ensembl
Innerchr11:62259959..62264859hg19UCSC Ensembl
Outerchr11:62259654..62265048hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626608
Supporting Variants
SamplesNA19452
Known GenesAHNAK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14179702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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