A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585172



Internal ID346751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:120884508..120909066hg38UCSC Ensembl
Outerchr7:120882417..120909386hg38UCSC Ensembl
Innerchr7:120524562..120549120hg19UCSC Ensembl
Outerchr7:120522471..120549440hg19UCSC Ensembl
Innerchr7:120311798..120336356hg18UCSC Ensembl
Outerchr7:120309707..120336676hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3826970
hg1926970
hg1826970
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274964
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585172
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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