A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023256



Internal ID9993730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43592920..43604064hg38UCSC Ensembl
Innerchr15:43885118..43896262hg19UCSC Ensembl
Innerchr15:41672410..41683554hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3811145
hg1911145
hg1811145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760393
Supporting Variants
SamplesRW_0220
Known GenesCKMT1B, RNU6-28P, STRC
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7023256
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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