A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21490



Internal ID11038724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3825338..4270692hg38UCSC Ensembl
Innerchr16:3875339..4320693hg19UCSC Ensembl
Innerchr16:3815340..4260694hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38445355
hg19445355
hg18445355
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15767, esv21031, esv9970, esv20992, esv18762, esv13542, esv18019, esv19264
SamplesNA07037, NA18511, NA12414, NA12004, NA07045
Known GenesADCY9, CREBBP, LOC100507501, SRL, TFAP4
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)esv21490
Frequency
Sample Size40
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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