A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760393



Internal ID10027756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43553224..43732292hg38UCSC Ensembl
Innerchr15:43845422..44024490hg19UCSC Ensembl
Innerchr15:41632714..41811782hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38179069
hg19179069
hg18179069
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45e203
Supporting Variantsessv7023268, essv7023263, essv7023265, essv7023260, essv7023258, essv7023254, essv7023264, essv7023267, essv7023262, essv7023257, essv7023256, essv7023259, essv7023261
SamplesRW_0330, RW_0181, RW_0255, RW_0062, RW_0558, RW_0310, RW_0195, RW_0663, RW_0562, RW_0275, RW_0220, RW_0215, RW_0034
Known GenesCATSPER2, CKMT1A, CKMT1B, PPIP5K1, 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)esv2760393
Frequency
Sample Size1109
Observed Gain2
Observed Loss11
Observed Complex0
Frequencyn/a


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