A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000085



Internal ID10024521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:53592144..55643724hg38UCSC Ensembl
Innerchr15:53884341..55935922hg19UCSC Ensembl
Innerchr15:51671633..53723214hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg382051581
hg192051582
hg182051582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761899
Supporting Variants
SamplesSW_1393
Known GenesC15orf65, CCPG1, DYX1C1, DYX1C1-CCPG1, MIR628, PIGB, PRTG, PYGO1, RAB27A, RSL24D1, UNC13C, WDR72
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)essv7000085
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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