A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003151



Internal ID7068259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228398266..228404477hg38UCSC Ensembl
Outerchr2:229262982..229269193hg19UCSC Ensembl
Outerchr2:228971226..228977437hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg386212
hg196212
hg186212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564452
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003151
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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