A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998356



Internal ID6734292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9405965..9406500hg38UCSC Ensembl
Innerchr2:9546094..9546629hg19UCSC Ensembl
Innerchr2:9463545..9464080hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38536
hg19536
hg18536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586766
SamplesHuRef
Known GenesITGB1BP1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998356
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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