A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004367



Internal ID6716491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33000552..33002198hg38UCSC Ensembl
Innerchr2:33225619..33227265hg19UCSC Ensembl
Innerchr2:33079123..33080769hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586862
SamplesHuRef
Known GenesLTBP1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004367
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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