A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578374



Internal ID18706572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201709076..201721391hg38UCSC Ensembl
Innerchr1:201678204..201690519hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812316
hg1912316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv136e212
Supporting Variantsessv9801922, essv9801966, essv9802089, essv9802033, essv9802100, essv9802077, essv9801878, essv9801989, essv9802022, essv9802044, essv9801933, essv9801833, essv9801811, essv9802055, essv9801944, essv9801855, essv9801844, essv9801867, essv9801889, essv9801911, essv9801955, essv9802000, essv9802066, essv9801978, essv9801822, essv9801900, essv9802011
Samples400316SL, 401706BJ, 401487FW, 401498HH, 401457WK, 401845MJ, 400325BE, 400191MP, 400337HG, 401746WW, 400507VD, 400929MM, 401873BK, 401785MJ, 400265LK, 401952UH, 401262RR, 401889FR, 400362TV, 401580CA, 401200BD, 401334DH, 401016IT, 401177SL, 400291VJ, 401882CR, 401490TL
Known GenesIPO9-AS1, MIR5191, NAV1
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)esv3578374
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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