A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25995



Internal ID11389914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41226521..41250821hg38UCSC Ensembl
Innerchr17:39382773..39407073hg19UCSC Ensembl
Innerchr17:36636299..36660599hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3824301
hg1924301
hg1824301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17469, esv16310, esv17564, esv17100
SamplesNA18508, NA19099, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8
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)esv25995
Frequency
Sample Size40
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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