A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20910



Internal ID11038144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76431582..76515411hg38UCSC Ensembl
Innerchr7:76060899..76144728hg19UCSC Ensembl
Innerchr7:75898835..75982664hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3883830
hg1983830
hg1883830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23516
Supporting Variantsessv35707
SamplesNA18907
Known GenesDTX2, FDPSP2, UPK3B, ZP3
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv20910
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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