A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580348



Internal ID18708546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80996245..81006069hg38UCSC Ensembl
Innerchr12:81390024..81399848hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg389825
hg199825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv495e212
Supporting Variantsessv9801680, essv9801671, essv9801651, essv9801642, essv9801683, essv9801655, essv9801660, essv9801670, essv9801659, essv9801681, essv9801654, essv9801648, essv9801676, essv9801665, essv9801685, essv9801652, essv9801674, essv9801666, essv9801677, essv9801657, essv9801669, essv9801664, essv9801647, essv9801640, essv9801649, essv9801663, essv9801650, essv9801675, essv9801684, essv9801662, essv9801653, essv9801668, essv9801646, essv9801682, essv9801679, essv9801641, essv9801672, essv9801661, essv9801673, essv9801643, essv9801658
Samples400359OR, 401366WD, 400554WB, 400132HN, 401117NA, 401845MJ, 400658BW, 400441GS, 400379BB, 401551MB, 400893ZE, 401842BJ, 402064DC, 401239PR, 400650RM, 402061PI, 401609MB, 401791FG, 400107MJ, 401192MJ, 400763BT, 400302HW, 400416KA, 400838AM, 401454CD, 400361HC, 401311GL, 400249BC, 400211BJ, 400362TV, 400611GG, 401365DJ, 401010HT, 400267GD, 402048WB, 401571SD, 400586RD, 401763SG, 400021ME, 402024BB, 400243CK
Known Genes
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)esv3580348
Frequency
Sample Size873
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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