A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586421



Internal ID7057803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37720610..37775321hg38UCSC Ensembl
Innerchr2:37947753..38002464hg19UCSC Ensembl
Innerchr2:37801257..37855968hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3854712
hg1954712
hg1854712
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992207
Supporting Variants
SamplesHuRef
Known Genes
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586421
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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