A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645917



Internal ID7032665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44762197..44764533hg38UCSC Ensembl
Innerchr20:44762199..44764531hg38UCSC Ensembl
Outerchr20:44762195..44764535hg38UCSC Ensembl
chr20:43390838..43393174hg19UCSC Ensembl
Innerchr20:43390840..43393172hg19UCSC Ensembl
Outerchr20:43390836..43393176hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382337
hg192337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16195994
SamplesNA19011
Known GenesRIMS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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