A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998203



Internal ID10026460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75369173..75587638hg38UCSC Ensembl
Innerchr13:75943309..76161774hg19UCSC Ensembl
Innerchr13:74841310..75059775hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38218466
hg19218466
hg18218466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761803
Supporting Variants
SamplesSW_1475
Known GenesCOMMD6, TBC1D4, UCHL3
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)essv6998203
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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