A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009216



Internal ID10349750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84159213..84729439hg38UCSC Ensembl
Innerchr3:84208364..84778590hg19UCSC Ensembl
Innerchr3:84291054..84861280hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38570227
hg19570227
hg18570227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760745
Supporting Variants
SamplesRW_0621
Known GenesLINC00971
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)essv7009216
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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