A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1495e212



Internal ID22784422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68570171..68686013hg38UCSC Ensembl
chr4:69435889..69551731hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38115843
hg19115843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575745, esv3575723, esv3575731, esv3575716, esv3575722, esv3575720, esv3575719, esv3575730
Samples400287BP, 400075MR, 400649PS, 400570RW, 401221LD, 400439IM, 400789KV, 401285HN, 401275SJ, 401769CR, 401299ST, 401036WS, 400949AM, 400852WJ, 401899MB, 401491BB, 400077EB, 401434VN, 401857VG, 400643LD, 401030GI, 400493KH, 401190WC, 400600DP, 401214BJ, 400749VW, 401831TW, 401495NR, 401818PC, 400929MM, 400577MK, 401655DC, 401027KW, 400040CN, 401540NA, 402052ZA, 401853WR, 401185LE, 401771OS, 400686BM, 401075MN, 401414CR, 400854SG, 400869BK, 400362TV, 400598DA, 400571WV, 400450FG, 400135DR, 400474GF, 401514BA, 401677MM, 401914PR, 400136DM, 400458LS, 400103BN, 400295PS, 401809FU, 401215MJ, 401105WS, 400209BS, 401207DA
Known GenesUGT2B15
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)dgv1495e212
Frequency
Sample Size873
Observed Gain62
Observed Loss0
Observed Complex0
Frequencyn/a


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