A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009292



Internal ID9994481
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760762
Supporting Variants
SamplesRW_0237
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)essv7009292
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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