A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23975



Internal ID11041208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515541..77068637hg38UCSC Ensembl
Innerchr7:76144858..76697954hg19UCSC Ensembl
Innerchr7:75982794..76535890hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38553097
hg19553097
hg18553097
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13371, esv17742, esv21045, esv18745, esv15804, esv14774, esv16550, esv13689, esv14509, esv12071, esv12555, esv20129
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA18505, NA12044, NA19147, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA12239, NA19129, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA19240
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
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)esv23975
Frequency
Sample Size40
Observed Gain24
Observed Loss26
Observed Complex0
Frequencyn/a


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