A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645512



Internal ID7032261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:22973022..22976453hg38UCSC Ensembl
Innerchr20:22973022..22976453hg38UCSC Ensembl
Outerchr20:22972858..22976623hg38UCSC Ensembl
chr20:22953659..22957090hg19UCSC Ensembl
Innerchr20:22953659..22957090hg19UCSC Ensembl
Outerchr20:22953495..22957260hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16160660, essv16160657, essv16160658, essv16160659, essv16160654, essv16160656, essv16160655
SamplesHG03247, HG01188, HG02624, HG02645, HG01242, HG03028, NA19096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645512
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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