A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275443



Internal ID348349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125088406..125088473hg38UCSC Ensembl
Outerchr10:125088186..125088954hg38UCSC Ensembl
Innerchr10:126776975..126777042hg19UCSC Ensembl
Outerchr10:126776755..126777523hg19UCSC Ensembl
Innerchr10:126766965..126767032hg18UCSC Ensembl
Outerchr10:126766745..126767513hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38769
hg19769
hg18769
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585809, essv2585608
Samples
Known GenesCTBP2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275443
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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