A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004274



Internal ID7069374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:72087729..72097180hg38UCSC Ensembl
Outerchr2:72314859..72324310hg19UCSC Ensembl
Outerchr2:72168367..72177818hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg389452
hg199452
hg189452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564283
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004274
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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