A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763742



Internal ID10031092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:25788356..25868676hg38UCSC Ensembl
Innerchr3:25829847..25910167hg19UCSC Ensembl
Innerchr3:25804851..25885171hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3880321
hg1980321
hg1880321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026367, essv7026378
SamplesSW_0173, SW_0021
Known GenesLINC00692, NGLY1, OXSM
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)esv2763742
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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