A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764243



Internal ID10378279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4968156..5000178hg38UCSC Ensembl
Innerchr1:5028216..5060238hg19UCSC Ensembl
Innerchr1:4928076..4960098hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3832023
hg1932023
hg1832023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004913, essv7004915, essv7004916, essv7004914
SamplesRW_0321, RW_0164, RW_0579, RW_0351
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)esv2764243
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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