A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761200



Internal ID10028562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24313097..24636778hg38UCSC Ensembl
Innerchr13:24887235..25210916hg19UCSC Ensembl
Innerchr13:23785235..24108916hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38323682
hg19323682
hg18323682
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997791, essv6997788, essv6997787, essv6997790, essv6997792
SamplesSW_0831, SW_1032, SW_1341, SW_0270, SW_0197
Known GenesC1QTNF9, PARP4, TPTE2P6
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)esv2761200
Frequency
Sample Size1109
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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