A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760899



Internal ID10028261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:15643377..15943563hg38UCSC Ensembl
Innerchr12:15796311..16096497hg19UCSC Ensembl
Innerchr12:15687578..15987764hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38300187
hg19300187
hg18300187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997054, essv6997056
SamplesSW_1358, SW_1306
Known GenesDERA, EPS8, STRAP
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)esv2760899
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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