A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580012



Internal ID18708210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:760099..764326hg38UCSC Ensembl
Innerchr12:869265..873492hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384228
hg194228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv432e212
Supporting Variantsessv9799478, essv9799498, essv9799502, essv9799500, essv9799492, essv9799490, essv9799469, essv9799476, essv9799497, essv9799493, essv9799480, essv9799482, essv9799494, essv9799487, essv9799485, essv9799491, essv9799479, essv9799496, essv9799489, essv9799483, essv9799474, essv9799495, essv9799468, essv9799473, essv9799472, essv9799486, essv9799481, essv9799501, essv9799475, essv9799471, essv9799484, essv9799470
Samples400287BP, 400145BL, 400569WC, 400204SC, 400634MP, 400554WB, 400432VA, 401275SJ, 400899NK, 401603HH, 400948EV, 402062KR, 401038LN, 401029SD, 400186WC, 400533BB, 401617KM, 400838AM, 401822TL, 401930GD, 400050RL, 401311GL, 400242TP, 401086MD, 401677MM, 400624RJ, 400323AA, 400012CJ, 401480PG, 401254AE, 400645KM, 401180GR
Known GenesWNK1
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)esv3580012
Frequency
Sample Size873
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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