A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12511076



Internal ID3672096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116138398..116145362hg38UCSC Ensembl
Innerchr6:116138436..116145324hg38UCSC Ensembl
Outerchr6:116138360..116145400hg38UCSC Ensembl
chr6:116459561..116466525hg19UCSC Ensembl
Innerchr6:116459599..116466487hg19UCSC Ensembl
Outerchr6:116459523..116466563hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg386965
hg196965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610468
Supporting Variants
SamplesHG03270
Known GenesNT5DC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12511076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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