A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997791



Internal ID10008196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24455157..24455436hg38UCSC Ensembl
Innerchr13:25029295..25029574hg19UCSC Ensembl
Innerchr13:23927295..23927574hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761200
Supporting Variants
SamplesSW_0197
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)essv6997791
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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