A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563694



Internal ID7036454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:20177127..20183610hg38UCSC Ensembl
Outerchr2:20376888..20383371hg19UCSC Ensembl
Outerchr2:20240369..20246852hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386484
hg196484
hg186484
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991709
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563694
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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