A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763006



Internal ID10030356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120293543..120312943hg38UCSC Ensembl
Innerchr12:120731346..120750746hg19UCSC Ensembl
Innerchr12:119215729..119235129hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3819401
hg1919401
hg1819401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021103
SamplesRW_0002
Known GenesSIRT4
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)esv2763006
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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