A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031018



Internal ID10015087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32158349hg38UCSC Ensembl
Innerchr5:32107084..32158455hg19UCSC Ensembl
Innerchr5:32142841..32194212hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3851372
hg1951372
hg1851372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763905
Supporting Variants
SamplesSW_1008
Known GenesGOLPH3, PDZD2
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)essv7031018
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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