A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14168719



Internal ID4170535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57642468..57654301hg38UCSC Ensembl
Innerchr11:57642618..57654151hg38UCSC Ensembl
Outerchr11:57642318..57654451hg38UCSC Ensembl
chr11:57409941..57421773hg19UCSC Ensembl
Innerchr11:57410091..57421623hg19UCSC Ensembl
Outerchr11:57409791..57421923hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3811834
hg1911833
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626505
Supporting Variants
SamplesHG03491
Known GenesYPEL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14168719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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