A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607831



Internal ID6994762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181256019..181257802hg38UCSC Ensembl
Innerchr5:181256031..181257790hg38UCSC Ensembl
Outerchr5:181256007..181257814hg38UCSC Ensembl
chr5:180683020..180684803hg19UCSC Ensembl
Innerchr5:180683032..180684791hg19UCSC Ensembl
Outerchr5:180683008..180684815hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381784
hg191784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12159520, essv12159519
SamplesNA21113, HG01678
Known GenesTRIM52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607831
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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