A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761763



Internal ID10374561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98544934..98564210hg38UCSC Ensembl
Innerchr12:98938712..98957988hg19UCSC Ensembl
Innerchr12:97462843..97482119hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3819277
hg1919277
hg1819277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997495
SamplesSW_1480
Known GenesTMPO
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)esv2761763
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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