A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763777



Internal ID10377813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:26554318..26575304hg38UCSC Ensembl
Innerchr3:26595809..26616795hg19UCSC Ensembl
Innerchr3:26570813..26591799hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3820987
hg1920987
hg1820987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026456, essv7026467, essv7026445
SamplesSW_0047, SW_0605, SW_1270
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)esv2763777
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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