A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13561



Internal ID9610960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43530960..43716382hg38UCSC Ensembl
Innerchr15:43823158..44008580hg19UCSC Ensembl
Innerchr15:41610450..41795872hg18UCSC Ensembl
Innerchr15:41610450..41795872hg17UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38185423
hg19185423
hg18185423
hg17185423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758379
Supporting Variants
SamplesNA19160
Known GenesCATSPER2, CKMT1A, CKMT1B, MAP1A, PPIP5K1, RNU6-28P, STRC
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv13561
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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