A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28515



Internal ID11045748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9406020..9406655hg38UCSC Ensembl
Innerchr2:9546149..9546784hg19UCSC Ensembl
Innerchr2:9463600..9464235hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10008
SamplesNA11995, NA18861, NA12156, NA12489, NA07045, NA19114, NA19225, NA18523, NA19108, NA12749, NA19129
Known GenesITGB1BP1
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)esv28515
Frequency
Sample Size40
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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