A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761769



Internal ID10029119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110042772..110057366hg38UCSC Ensembl
Innerchr12:110480577..110495171hg19UCSC Ensembl
Innerchr12:108964960..108979554hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3814595
hg1914595
hg1814595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997571
SamplesSW_0842
Known GenesC12orf76
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)esv2761769
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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