A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14200060



Internal ID4201876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68034854..68035834hg38UCSC Ensembl
Innerchr11:68034925..68035564hg38UCSC Ensembl
Outerchr11:68034670..68036018hg38UCSC Ensembl
chr11:67802321..67803301hg19UCSC Ensembl
Innerchr11:67802392..67803031hg19UCSC Ensembl
Outerchr11:67802137..67803485hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626731
Supporting Variants
SamplesHG01802
Known GenesNDUFS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14200060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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