A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16195994



Internal ID5563539
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645917
Supporting Variants
SamplesNA19011
Known GenesRIMS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16195994
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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