A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760250



Internal ID10376558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842191..7978362hg38UCSC Ensembl
Innerchr12:7994787..8130958hg19UCSC Ensembl
Innerchr12:7886054..8022225hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136172
hg19136172
hg18136172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020349, essv7020345, essv7020352, essv7020342, essv7020343, essv7020350, essv7020351, essv7020348, essv7020347, essv7020346
SamplesRW_0058, RW_0323, RW_0560, RW_0011, RW_0118, RW_0576, RW_0515, RW_0106, RW_0207, RW_0532
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)esv2760250
Frequency
Sample Size1109
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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