A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594758



Internal ID6982078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238381877..238387207hg38UCSC Ensembl
Innerchr2:238381927..238387157hg38UCSC Ensembl
Outerchr2:238381827..238387257hg38UCSC Ensembl
chr2:239290518..239295848hg19UCSC Ensembl
Innerchr2:239290568..239295798hg19UCSC Ensembl
Outerchr2:239290468..239295898hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385331
hg195331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887596
SamplesNA20531
Known GenesTRAF3IP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594758
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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