A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12447959



Internal ID6587021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79085485..79214414hg38UCSC Ensembl
Innerchr6:79085508..79214392hg38UCSC Ensembl
Outerchr6:79085463..79214437hg38UCSC Ensembl
chr6:79795202..79924131hg19UCSC Ensembl
Innerchr6:79795225..79924109hg19UCSC Ensembl
Outerchr6:79795180..79924154hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38128930
hg19128930
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609679
Supporting Variants
SamplesNA20766
Known GenesHMGN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12447959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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