A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16182082



Internal ID6183920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38918552..38972807hg38UCSC Ensembl
Innerchr20:38918702..38972657hg38UCSC Ensembl
Outerchr20:38918402..38972957hg38UCSC Ensembl
chr20:37547195..37601450hg19UCSC Ensembl
Innerchr20:37547345..37601300hg19UCSC Ensembl
Outerchr20:37547045..37601600hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3854256
hg1954256
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645793
Supporting Variants
SamplesHG01816
Known GenesDHX35, FAM83D, PPP1R16B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16182082
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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