A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020342



Internal ID10333768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842191..7927734hg38UCSC Ensembl
Innerchr12:7994787..8080330hg19UCSC Ensembl
Innerchr12:7886054..7971597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3885544
hg1985544
hg1885544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760250
Supporting Variants
SamplesRW_0058
Known GenesSLC2A14, SLC2A3
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)essv7020342
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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