A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996342



Internal ID10018709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134293507..134525186hg38UCSC Ensembl
Innerchr11:134163401..134395080hg19UCSC Ensembl
Innerchr11:133668611..133900290hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38231680
hg19231680
hg18231680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760555
Supporting Variants
SamplesSW_1137
Known GenesB3GAT1, GLB1L2, GLB1L3, LOC283177
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)essv6996342
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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