A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28434



Internal ID11392353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26876034..27020136hg38UCSC Ensembl
Innerchr6:26843813..26987915hg19UCSC Ensembl
Innerchr6:26951792..27095894hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38144103
hg19144103
hg18144103
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20357, esv10108, esv19090, esv15177, esv12091
SamplesNA18502, NA18508, NA11931, NA12004, NA19190, NA12287, NA12156, NA12044, NA11993, NA12878, NA07045, NA12239, NA06985, NA18523, NA18858, NA18909, NA18517, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesGUSBP2, LINC00240, LOC100270746
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)esv28434
Frequency
Sample Size40
Observed Gain20
Observed Loss5
Observed Complex0
Frequencyn/a


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