A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16179983



Internal ID6181799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37304869..37305859hg38UCSC Ensembl
Innerchr20:37304913..37305816hg38UCSC Ensembl
Outerchr20:37304826..37305903hg38UCSC Ensembl
chr20:35933272..35934262hg19UCSC Ensembl
Innerchr20:35933316..35934219hg19UCSC Ensembl
Outerchr20:35933229..35934306hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645756
Supporting Variants
SamplesHG01804
Known GenesMANBAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16179983
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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