A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593211



Internal ID6980535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164031387..164033920hg38UCSC Ensembl
Innerchr2:164031389..164033919hg38UCSC Ensembl
Outerchr2:164031386..164033922hg38UCSC Ensembl
chr2:164887897..164890430hg19UCSC Ensembl
Innerchr2:164887899..164890429hg19UCSC Ensembl
Outerchr2:164887896..164890432hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382534
hg192534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10745359, essv10745361, essv10745360, essv10745358
SamplesNA19909, HG03298, NA19819, HG03190
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593211
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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