A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763724



Internal ID10377760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:35759275..35900278hg38UCSC Ensembl
Innerchr3:35800767..35941770hg19UCSC Ensembl
Innerchr3:35775771..35916774hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38141004
hg19141004
hg18141004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026556, essv7026545
SamplesSW_1172, SW_1301
Known GenesARPP21
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)esv2763724
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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