A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583931



Internal ID18365443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97521942..97545713hg38UCSC Ensembl
Innerchr2:98138405..98162176hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3823772
hg1923772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1153e212
Supporting Variantsessv9832488, essv9832154, essv9832165, essv9832299, essv9832388, essv9832610, essv9832599, essv9832222, essv9832121, essv9832555, essv9832566, essv9832266, essv9832588, essv9832187, essv9832577, essv9832544, essv9832099, essv9832233, essv9832200, essv9832399, essv9832211, essv9832132, essv9832499, essv9832422, essv9832444, essv9832466, essv9832322, essv9832621, essv9832143, essv9832366, essv9832510, essv9832255, essv9832110, essv9832244, essv9832533, essv9832355, essv9832333, essv9832433, essv9832288, essv9832344, essv9832521, essv9832377, essv9832410, essv9832477, essv9832277, essv9832176
Samples401799DP, 400308SP, 400649PS, 400534ME, 400554WB, 400132HN, 400594VJ, 400468OB, 401415CB, 401321CE, 401966SR, 401457WK, 401603HH, 400438DB, 400588BE, 400337HG, 400127MD, 401832MC, 401155ML, 400836LK, 400870KC, 400040CN, 401617KM, 401589HP, 401930GD, 401762SD, 400886MP, 400371GA, 400520FM, 400999HR, 401259LS, 401176BD, 400444MM, 400732MA, 400471YS, 400156WT, 401881TJ, 401277RA, 400759FV, 400205SP, 400719TM, 400849SH, 401681MS, 401177SL, 400661AD, 401066MM
Known GenesANKRD36B
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)esv3583931
Frequency
Sample Size873
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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