A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14219461



Internal ID2180708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83126260..83135154hg38UCSC Ensembl
Innerchr11:83126760..83134654hg38UCSC Ensembl
Outerchr11:83125260..83136154hg38UCSC Ensembl
chr11:82837302..82846196hg19UCSC Ensembl
Innerchr11:82837802..82845696hg19UCSC Ensembl
Outerchr11:82836302..82847196hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg388895
hg198895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627010
Supporting Variants
SamplesHG01970
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14219461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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