A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11910



Internal ID11375829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148376034..148379238hg38UCSC Ensembl
Innerchr7:148073126..148076330hg19UCSC Ensembl
Innerchr7:147704059..147707263hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383205
hg193205
hg183205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26161
Supporting Variantsessv54820, essv69538, essv52352, essv33499, essv65254, essv75822, essv81850, essv39159, essv57606, essv60008, essv56097, essv53510, essv43063, essv48895, essv47922, essv34668, essv77657, essv72062, essv37992, essv45221, essv49892, essv57998, essv62494, essv51223, essv36366, essv69003, essv71456, essv80088
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA18916, NA12287, NA12044, NA11993, NA18907, NA19114, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA19129, NA12006, NA12776
Known GenesCNTNAP2
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)esv11910
Frequency
Sample Size40
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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