A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763007



Internal ID10030357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120872048..120879475hg38UCSC Ensembl
Innerchr12:121309851..121317278hg19UCSC Ensembl
Innerchr12:119794234..119801661hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387428
hg197428
hg187428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021104
SamplesRW_0277
Known GenesSPPL3
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)esv2763007
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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