A curated catalogue of human genomic structural variation




Variant Details

Variant: essv80486



Internal ID10983248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103602770..103618700hg38UCSC Ensembl
Innerchr1:104145392..104161322hg19UCSC Ensembl
Innerchr1:103946915..103962845hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3815931
hg1915931
hg1815931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11093
Supporting Variants
SamplesNA11995
Known GenesAMY2A
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)essv80486
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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