A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16175359



Internal ID6075237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33458554..33460260hg38UCSC Ensembl
Innerchr20:33458554..33460260hg38UCSC Ensembl
Outerchr20:33458354..33460490hg38UCSC Ensembl
chr20:32046360..32048066hg19UCSC Ensembl
Innerchr20:32046360..32048066hg19UCSC Ensembl
Outerchr20:32046160..32048296hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381707
hg191707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645681
Supporting Variants
SamplesNA19462
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16175359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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