A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14295724



Internal ID1701863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122070336..122072825hg38UCSC Ensembl
Innerchr11:122070336..122072825hg38UCSC Ensembl
Outerchr11:122070165..122073106hg38UCSC Ensembl
chr11:121941044..121943533hg19UCSC Ensembl
Innerchr11:121941044..121943533hg19UCSC Ensembl
Outerchr11:121940873..121943814hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627937
Supporting Variants
SamplesHG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14295724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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