A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645925



Internal ID7032673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45234868..45236226hg38UCSC Ensembl
Innerchr20:45234870..45236225hg38UCSC Ensembl
Outerchr20:45234867..45236228hg38UCSC Ensembl
chr20:43863509..43864867hg19UCSC Ensembl
Innerchr20:43863511..43864866hg19UCSC Ensembl
Outerchr20:43863508..43864869hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196144, essv16196141, essv16196140, essv16196146, essv16196145, essv16196143, essv16196142
SamplesHG02973, HG03175, HG02485, HG02922, HG03073, HG02580, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645925
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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