A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10641089



Internal ID642905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119686497..119688667hg38UCSC Ensembl
Innerchr2:119686499..119688666hg38UCSC Ensembl
Outerchr2:119686496..119688669hg38UCSC Ensembl
chr2:120444073..120446243hg19UCSC Ensembl
Innerchr2:120444075..120446242hg19UCSC Ensembl
Outerchr2:120444072..120446245hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592171
Supporting Variants
SamplesNA19037
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10641089
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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