A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv239e212



Internal ID22783166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52802038..52805152hg38UCSC Ensembl
chr10:54561798..54564912hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383115
hg193115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578902, esv3578903, esv3578900, esv3578901, esv3578905
Samples401474CE, 400927BD, 401162TM, 400880TM, 400917CG, 401498HH, 401321CE, 400083TG, 401603HH, 401536BD, 400953MR, 400558BL, 400486LS, 401926MR, 400051MR, 400882DD, 400503HD, 400134WK, 400526DR, 400609FJ, 400109LJ, 401739BJ, 401234MB, 401834CB, 400064WJ, 400496BL, 401454CD, 401586RS, 401730MS, 401813DN, 401084BD, 401504RJ, 400886MP, 400639RP, 400211BJ, 402074RR, 40050SB, 400135DR, 401176BD, 400788PV, 400136DM, 400201PK, 401535RJ, 401958MF, 401288LD, 400501SJ, 400769SL, 401861GG, 401912HD, 400130HA, 400178RH, 401612HB
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)dgv239e212
Frequency
Sample Size873
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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