A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576473



Internal ID18704671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146217844..146222181hg38UCSC Ensembl
Innerchr7:145914936..145919273hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384338
hg194338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1979e212
Supporting Variantsessv9785583, essv9785590, essv9785606, essv9785574, essv9785594, essv9785575, essv9785576, essv9785592, essv9785585, essv9785602, essv9785588, essv9785603, essv9785582, essv9785580, essv9785587, essv9785593, essv9785595, essv9785586, essv9785596, essv9785605, essv9785577, essv9785579, essv9785598, essv9785573, essv9785604, essv9785597, essv9785584, essv9785601, essv9785581, essv9785591, essv9785599
Samples401799DP, 400424LN, 400618GC, 400377WJ, 401074CM, 400068PW, 400509CJ, 400937OR, 400347VJ, 400827MM, 400022WA, 400663MD, 401251WN, 400758KP, 401475MK, 401506LK, 401087SF, 400278PD, 401369GR, 401203MP, 401898DS, 401608GE, 400246MG, 401054VM, 401571SD, 401861GG, 400508RD, 400581VJ, 401612HB, 400255CD, 400269DA
Known GenesCNTNAP2
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)esv3576473
Frequency
Sample Size873
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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