A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24646



Internal ID11041879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226501..44227936hg38UCSC Ensembl
Innerchr7:44266100..44267535hg19UCSC Ensembl
Innerchr7:44232625..44234060hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381436
hg191436
hg181436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12464, esv18919
SamplesNA12776, NA15510, NA12044, NA19147, NA12414, NA18916, NA07045, NA06985
Known GenesCAMK2B
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)esv24646
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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