A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18251



Internal ID11035485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45512035..45520289hg38UCSC Ensembl
Innerchr17:43589401..43597655hg19UCSC Ensembl
Innerchr17:40945184..40953438hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388255
hg198255
hg188255
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26189
Supporting Variantsessv40433, essv50759, essv75530, essv57611, essv33495, essv39305, essv43603, essv64452, essv81014, essv62967
SamplesNA11995, NA12414, NA11931, NA12287, NA11993, NA12878, NA07045, NA15510, NA18909, NA19147
Known GenesLRRC37A4P
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)esv18251
Frequency
Sample Size40
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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