A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274922



Internal ID347769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144788445..144801987hg38UCSC Ensembl
Outerchr7:144788396..144802368hg38UCSC Ensembl
Innerchr7:144485538..144499080hg19UCSC Ensembl
Outerchr7:144485489..144499461hg19UCSC Ensembl
Innerchr7:144116471..144130013hg18UCSC Ensembl
Outerchr7:144116422..144130394hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3813973
hg1913973
hg1813973
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586070, essv2585646
Samples
Known GenesTPK1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274922
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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