A curated catalogue of human genomic structural variation




Variant Details

Variant: essv48840



Internal ID10976972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45512135..45625947hg38UCSC Ensembl
Innerchr17:43589501..43703313hg19UCSC Ensembl
Innerchr17:40945284..41059096hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38113813
hg19113813
hg18113813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18131
Supporting Variants
SamplesNA07037
Known GenesCRHR1, LOC644172, LRRC37A4P, MGC57346
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)essv48840
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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