A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv136e212

Internal ID20148592
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201707431..201721391hg38UCSC Ensembl
chr1:201676559..201690519hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578374, esv3578373, esv3578375
Samples400191MP, 401580CA, 400929MM, 401258PC, 401785MJ, 400316SL, 401262RR, 400362TV, 401200BD, 400291VJ, 400507VD, 401016IT, 401490TL, 401952UH, 401487FW, 401457WK, 401177SL, 401334DH, 401454CD, 401112LG, 401873BK, 400337HG, 400325BE, 401498HH, 401882CR, 401746WW, 401706BJ, 401845MJ, 401889FR, 400265LK
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
Pubmed ID25503493
Accession Number(s)dgv136e212
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0

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