A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26750



Internal ID11043983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49973775..50017690hg38UCSC Ensembl
Innerchr10:51733535..51777450hg19UCSC Ensembl
Innerchr10:51403541..51447456hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3843916
hg1943916
hg1843916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12179
SamplesNA12878
Known GenesAGAP6
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)esv26750
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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