A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991222



Internal ID6727186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174225818..174226601hg38UCSC Ensembl
Outerchr2:175090546..175091329hg19UCSC Ensembl
Outerchr2:174798792..174799575hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38784
hg19784
hg18784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564004
SamplesHuRef
Known GenesOLA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991222
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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