A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764128



Internal ID10031478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133061625..133082053hg38UCSC Ensembl
Innerchr9:135937012..135957440hg19UCSC Ensembl
Innerchr9:134926833..134947261hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3820429
hg1920429
hg1820429
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994373, essv6994371, essv6994374, essv6994370, essv6994375, essv6994372
SamplesSW_0086, SW_1391, SW_1190, SW_1523, SW_1520, SW_0716
Known GenesCEL
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)esv2764128
Frequency
Sample Size1109
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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