A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576382



Internal ID18704580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75724795..75734976hg38UCSC Ensembl
Innerchr7:75354113..75364294hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810182
hg1910182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1926e212
Supporting Variantsessv9784164, essv9784161, essv9784162, essv9784160, essv9784157, essv9784158, essv9784159, essv9784165, essv9784163
Samples401911FL, 402062KR, 401165SB, 401952UH, 400721DJ, 401552BK, 401413RG, 4000046CJ, 401066MM
Known GenesHIP1
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576382
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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