A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1304e212



Internal ID22784231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25260254..25529674hg38UCSC Ensembl
chr22:25656221..25925641hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38269421
hg19269421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575461, esv3575453, esv3575463, esv3575462, esv3575465, esv3575464, esv3575454, esv3575457, esv3575459, esv3575456, esv3575458, esv3575455, esv3575466
Samples401459HF, 401033DJ, 401366WD, 400984LD, 401819BS, 401275SJ, 401956DQ, 400730SH, 401918CA, 401536BD, 400600DP, 400148MS, 400526DR, 402012RR, 400348DK, 401994BD, 400502GS, 400113LD, 401732HW, 401050GS, 401870FB, 400768MN, 401950MD, 400240HJ, 400844GP, 401619BT, 401478RD, 401952UH, 400639RP, 400603CJ, 400520FM, 401176BD, 401514BA, 400795CL, 401334DH, 400859SC, 401177SL, 400138LA
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)dgv1304e212
Frequency
Sample Size873
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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