A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580482



Internal ID18361994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115964676..115969198hg38UCSC Ensembl
Innerchr12:116402481..116407003hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg384523
hg194523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9802332, essv9802325, essv9802328, essv9802338, essv9802327, essv9802336, essv9802340, essv9802318, essv9802320, essv9802343, essv9802342, essv9802326, essv9802333, essv9802341, essv9802335, essv9802337, essv9802331, essv9802321, essv9802322, essv9802339, essv9802324, essv9802329, essv9802330, essv9802319, essv9802344
Samples400768MN, 401979TB, 401246HH, 401489CB, 400106PC, 401075MN, 400599CP, 401763SG, 401694SG, 400598DA, 400811SK, 401655DC, 400032RC, 401406KF, 400337HG, 400655WB, 400795CL, 402008MC, 401919MD, 400582WS, 400344DR, 401010HT, 401838EN, 40050SB, 401813DN
Known GenesMED13L
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)esv3580482
Frequency
Sample Size873
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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