A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761783



Internal ID10374581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31151962..31318893hg38UCSC Ensembl
Innerchr13:31726099..31893030hg19UCSC Ensembl
Innerchr13:30624099..30791030hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38166932
hg19166932
hg18166932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997796
SamplesSW_0590
Known GenesB3GALTL, HSPH1
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)esv2761783
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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