A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24002



Internal ID11387921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65073707..65176928hg38UCSC Ensembl
Innerchr7:64534085..64637306hg19UCSC Ensembl
Innerchr7:64171520..64274741hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38103222
hg19103222
hg18103222
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10484, esv20927, esv16908, esv11772, esv10869, esv18831
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesCCT6P3
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)esv24002
Frequency
Sample Size40
Observed Gain19
Observed Loss32
Observed Complex0
Frequencyn/a


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