A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196675



Internal ID2065740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46096958..46097392hg38UCSC Ensembl
Innerchr20:46096963..46097388hg38UCSC Ensembl
Outerchr20:46096954..46097397hg38UCSC Ensembl
chr20:44725597..44726031hg19UCSC Ensembl
Innerchr20:44725602..44726027hg19UCSC Ensembl
Outerchr20:44725593..44726036hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645945
Supporting Variants
SamplesHG01882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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