A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997788



Internal ID10009029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24341939..24456976hg38UCSC Ensembl
Innerchr13:24916077..25031114hg19UCSC Ensembl
Innerchr13:23814077..23929114hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38115038
hg19115038
hg18115038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761200
Supporting Variants
SamplesSW_0270
Known GenesPARP4
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)essv6997788
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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