A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761282



Internal ID10028644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69532292..69534559hg38UCSC Ensembl
Innerchr9:72147208..72149475hg19UCSC Ensembl
Innerchr9:71337028..71339295hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg382268
hg192268
hg182268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017865, essv7017864, essv7017866
SamplesRW_0062, RW_0056, RW_0639
Known GenesAPBA1
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)esv2761282
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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