A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763002



Internal ID10030352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108780333..108811466hg38UCSC Ensembl
Innerchr12:109174109..109205242hg19UCSC Ensembl
Innerchr12:107698238..107729371hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3831134
hg1931134
hg1831134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021096
SamplesRW_0659
Known GenesSSH1
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)esv2763002
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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