A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764229



Internal ID10378265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76701130..76725864hg38UCSC Ensembl
Innerchr1:77166815..77191549hg19UCSC Ensembl
Innerchr1:76939403..76964137hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3824735
hg1924735
hg1824735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005585, essv7005587, essv7005588, essv7005583, essv7005584, essv7005586
SamplesRW_0203, RW_0096, RW_0540, RW_0176, RW_0666, RW_0184
Known Genes
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)esv2764229
Frequency
Sample Size1109
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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