A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142964



Internal ID3503136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12340242..12346139hg38UCSC Ensembl
Innerchr20:12340742..12345639hg38UCSC Ensembl
Outerchr20:12339242..12347139hg38UCSC Ensembl
chr20:12320890..12326787hg19UCSC Ensembl
Innerchr20:12321390..12326287hg19UCSC Ensembl
Outerchr20:12319890..12327787hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg385898
hg195898
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645253
Supporting Variants
SamplesHG03109
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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