A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14250960



Internal ID5406671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:100729712..100769076hg38UCSC Ensembl
Innerchr11:100729712..100769076hg38UCSC Ensembl
Outerchr11:100729212..100769576hg38UCSC Ensembl
chr11:100600443..100639807hg19UCSC Ensembl
Innerchr11:100600443..100639807hg19UCSC Ensembl
Outerchr11:100599943..100640307hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3839365
hg1939365
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627492
Supporting Variants
SamplesNA18946
Known GenesARHGAP42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14250960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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