A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26704



Internal ID11390623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87388736..87516801hg38UCSC Ensembl
Innerchr10:89148493..89276558hg19UCSC Ensembl
Innerchr10:89138473..89266538hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38128066
hg19128066
hg18128066
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13250, esv17069, esv19671, esv10422, esv15125
SamplesNA18502, NA11995, NA18861, NA18508, NA11931, NA19190, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA15510, NA19099, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA18511
Known GenesLINC00864, MINPP1, MIR4678
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)esv26704
Frequency
Sample Size40
Observed Gain10
Observed Loss27
Observed Complex0
Frequencyn/a


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