A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275176



Internal ID1396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112849163..112849893hg38UCSC Ensembl
Outerchr12:112844335..112850987hg38UCSC Ensembl
Innerchr12:113286968..113287698hg19UCSC Ensembl
Outerchr12:113282140..113288792hg19UCSC Ensembl
Innerchr12:111771351..111772081hg18UCSC Ensembl
Outerchr12:111766523..111773175hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386653
hg196653
hg186653
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585990, essv2585164
Samples
Known GenesRPH3A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275176
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer