A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10744692



Internal ID5740991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163077611..163079288hg38UCSC Ensembl
Innerchr2:163077621..163079278hg38UCSC Ensembl
Outerchr2:163077601..163079298hg38UCSC Ensembl
chr2:163934121..163935798hg19UCSC Ensembl
Innerchr2:163934131..163935788hg19UCSC Ensembl
Outerchr2:163934111..163935808hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593194
Supporting Variants
SamplesNA19116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10744692
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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