A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760762



Internal ID10028124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:115757375..116088803hg38UCSC Ensembl
Innerchr3:115476222..115807650hg19UCSC Ensembl
Innerchr3:116958912..117290340hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38331429
hg19331429
hg18331429
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009293, essv7009292
SamplesRW_0237, RW_0217
Known GenesLSAMP
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)esv2760762
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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