A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116456



Internal ID4118272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44595130..44595842hg38UCSC Ensembl
Innerchr11:44595180..44595792hg38UCSC Ensembl
Outerchr11:44595066..44595906hg38UCSC Ensembl
chr11:44616680..44617392hg19UCSC Ensembl
Innerchr11:44616730..44617342hg19UCSC Ensembl
Outerchr11:44616616..44617456hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626163
Supporting Variants
SamplesHG03079
Known GenesCD82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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