A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591345



Internal ID6978673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:77001363..77006475hg38UCSC Ensembl
Innerchr2:77001363..77006475hg38UCSC Ensembl
Outerchr2:77001155..77006681hg38UCSC Ensembl
chr2:77228489..77233601hg19UCSC Ensembl
Innerchr2:77228489..77233601hg19UCSC Ensembl
Outerchr2:77228281..77233807hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385113
hg195113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10550279
SamplesHG02136
Known GenesLRRTM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591345
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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