A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593131



Internal ID6633411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160192285..160194803hg38UCSC Ensembl
Innerchr2:160192303..160194786hg38UCSC Ensembl
Outerchr2:160192268..160194821hg38UCSC Ensembl
chr2:161048796..161051314hg19UCSC Ensembl
Innerchr2:161048814..161051297hg19UCSC Ensembl
Outerchr2:161048779..161051332hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382519
hg192519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10733124
SamplesHG04155
Known GenesITGB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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