A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586088



Internal ID347667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:116751287..116751528hg38UCSC Ensembl
Outerchr7:116742864..116755464hg38UCSC Ensembl
Innerchr7:116391341..116391582hg19UCSC Ensembl
Outerchr7:116382918..116395518hg19UCSC Ensembl
Innerchr7:116178577..116178818hg18UCSC Ensembl
Outerchr7:116170154..116182754hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3812601
hg1912601
hg1812601
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274927
Supporting Variants
Samples
Known GenesMET
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586088
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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