A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586070



Internal ID347649
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274922
Supporting Variants
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)essv2586070
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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