A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1482e212



Internal ID22784409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55625395..55637917hg38UCSC Ensembl
chr4:56491562..56504084hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812523
hg1912523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569432, esv3569430
Samples401749DJ, 401420PJ, 401110GJ, 400145BL, 401074CM, 400622SJ, 400866RR, 401841OB, 401302LJ, 400506GN, 401783BD, 400899NK, 400191MP, 400674CA, 400022WA, 400583HS, 401566DD, 401303FM, 401994BD, 400198MD, 400218WK, 400733SW, 401377MA, 400929MM, 401347DH, 400615RI, 400038CK, 400825TW, 402052ZA, 401853WR, 400496BL, 401804FG, 401419SW, 401942MP, 401504RJ, 401606CG, 400886MP, 400846MC, 402074RR, 400520FM, 400450FG, 401874DJ, 400611GG, 400695PH, 400201PK, 400168HC, 400732MA, 401428LD, 401608GE, 400156WT, 401611CD, 400863SS, 400769SL, 401567BD, 400044HS, 401543DC, 400785AK, 400013TA, 402023EC, 401053MF, 400540BM, 400890IT, 400138LA
Known GenesNMU
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)dgv1482e212
Frequency
Sample Size873
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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