A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760124



Internal ID10027487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:2641047..3094525hg38UCSC Ensembl
Innerchr10:2683239..3136717hg19UCSC Ensembl
Innerchr10:2673239..3126717hg18UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38453479
hg19453479
hg18453479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018135, essv7018134
SamplesRW_0524, RW_0008
Known GenesPFKP
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)esv2760124
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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