A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000052



Internal ID10023516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43542120..43646608hg38UCSC Ensembl
Innerchr15:43834318..43938806hg19UCSC Ensembl
Innerchr15:41621610..41726098hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38104489
hg19104489
hg18104489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761766
Supporting Variants
SamplesSW_1346
Known GenesCATSPER2, 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)essv7000052
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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