A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24325



Internal ID11041558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:38815447..39397758hg38UCSC Ensembl
Innerchr9:65467706..65918330hg19UCSC Ensembl
Innerchr9:65207526..65658150hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38582312
hg19450625
hg18450625
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12683, esv14775, esv15558, esv11533, esv20889, esv10669
SamplesNA12489, NA18861, NA18523, NA19114, NA12776, NA19108, NA12044, NA12287, NA12004, NA11894, NA11995, NA19190, NA12006, NA18858, NA18907, NA18909, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesFAM74A2, FAM74A4, SPATA31A5, SPATA31A7
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)esv24325
Frequency
Sample Size40
Observed Gain16
Observed Loss9
Observed Complex0
Frequencyn/a


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