A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761285



Internal ID10028647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114049617..114340988hg38UCSC Ensembl
Innerchr9:116811897..117103268hg19UCSC Ensembl
Innerchr9:115851718..116143089hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38291372
hg19291372
hg18291372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018069, essv7018070
SamplesRW_0634, RW_0626
Known GenesAKNA, AMBP, COL27A1, KIF12, MIR455, ORM1, ORM2, ZNF618
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)esv2761285
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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