A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645793



Internal ID6685854
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16182082
SamplesHG01816
Known GenesDHX35, FAM83D, PPP1R16B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645793
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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