A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2328e212



Internal ID20150784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:86035724..86038431hg38UCSC Ensembl
chrX:85290728..85293435hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg382708
hg192708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574144, esv3574141, esv3574143, esv3574146
Samples400063BR, 400569WC, 401986LC, 400132HN, 40031BA, 401074CM, 400834SS, 401603HH, 400934LA, 401536BD, 401695BT, 401006ES, 400588BE, 400600DP, 400231LP, 401550SP, 400385LJ, 401620BA, 400413FJ, 401397WN, 400702PA, 400043HC, 401864CV, 4000657TM, 401892MJ, 400248JO, 400846MC, 401011PJ, 400571WV, 400378HL, 400444MM, 400168HC, 401608GE, 402060PD, 400863SS, 400930MK, 401215MJ, 400778SR, 401817MC, 400108BJ, 401284NA, 400150SS, 401576WC, 400138LA, 401068SD
Known GenesCHM
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)dgv2328e212
Frequency
Sample Size873
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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