A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10689982



Internal ID3263098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139291211..139321908hg38UCSC Ensembl
Innerchr2:139291212..139321907hg38UCSC Ensembl
Outerchr2:139291210..139321909hg38UCSC Ensembl
chr2:140048781..140079478hg19UCSC Ensembl
Innerchr2:140048782..140079477hg19UCSC Ensembl
Outerchr2:140048780..140079479hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3830698
hg1930698
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592660
Supporting Variants
SamplesHG02882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10689982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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