A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv577e212



Internal ID22783504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100338498..100340501hg38UCSC Ensembl
chr13:100990752..100992755hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580858, esv3580859
Samples400789KV, 400594VJ, 400377WJ, 401911FL, 402067KS, 401856GC, 401093VL, 401603HH, 401190WC, 401390DG, 401019MP, 401990PR, 400718PS, 400127MD, 400033KC, 400871CM, 401029SD, 401646MC, 400198MD, 401376RD, 400110MD, 400702PA, 400838AM, 401494PD, 400496BL, 401618HR, 400686BM, 401414CR, 400135DR, 401700BN, 400728PB, 402009WP, 400845ML, 401054VM, 400971MK, 400778SR, 400108BJ, 401969DR, 400021ME, 400255CD, 400704LC
Known GenesPCCA
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)dgv577e212
Frequency
Sample Size873
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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