A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645944



Internal ID7032690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45988251..45998285hg38UCSC Ensembl
Innerchr20:45988266..45998271hg38UCSC Ensembl
Outerchr20:45988237..45998300hg38UCSC Ensembl
chr20:44616890..44626924hg19UCSC Ensembl
Innerchr20:44616905..44626910hg19UCSC Ensembl
Outerchr20:44616876..44626939hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3810035
hg1910035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196668, essv16196669, essv16196670, essv16196666, essv16196667, essv16196671, essv16196672
SamplesNA20802, NA12812, HG01354, HG00264, NA20506, NA20773, HG01489
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645944
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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