A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645413



Internal ID7032163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16681951..16687225hg38UCSC Ensembl
chr20:16662596..16667870hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg385275
hg195275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16152128, essv16152133, essv16152137, essv16152130, essv16152132, essv16152129, essv16152139, essv16152140, essv16152135, essv16152138, essv16152134, essv16152131, essv16152136
SamplesHG00100, NA20808, NA19792, HG00736, NA21122, HG03709, HG02737, HG00101, HG02649, HG03866, HG02654, HG01886, NA20827
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645413
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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