A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17556



Internal ID11381475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144187094..144265395hg38UCSC Ensembl
Innerchr7:143884187..143962488hg19UCSC Ensembl
Innerchr7:143515120..143593421hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3878302
hg1978302
hg1878302
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24292
Supporting Variantsessv73558, essv47443
SamplesNA18861, NA12156
Known GenesARHGEF34P, ARHGEF35, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)esv17556
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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