A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996343



Internal ID10025522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134477668..134849674hg38UCSC Ensembl
Innerchr11:134347562..134719568hg19UCSC Ensembl
Innerchr11:133852772..134224778hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38372007
hg19372007
hg18372007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760555
Supporting Variants
SamplesSW_1435
Known GenesLOC283177
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)essv6996343
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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