A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008822



Internal ID6720929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542668..237545259hg38UCSC Ensembl
Innerchr2:238451311..238453902hg19UCSC Ensembl
Innerchr2:238116050..238118641hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382592
hg192592
hg182592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586557
SamplesHuRef
Known GenesMLPH
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008822
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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