A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999870



Internal ID10025389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30608675..30796274hg38UCSC Ensembl
Innerchr15:30900878..31088477hg19UCSC Ensembl
Innerchr15:28688170..28875769hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38187600
hg19187600
hg18187600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761732
Supporting Variants
SamplesSW_1429
Known GenesARHGAP11B, GOLGA8H, LOC100288637
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)essv6999870
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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