A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020030



Internal ID9998510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59023521..59094621hg38UCSC Ensembl
Innerchr11:58790994..58862094hg19UCSC Ensembl
Innerchr11:58547570..58618670hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3871101
hg1971101
hg1871101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760175
Supporting Variants
SamplesRW_0504
Known GenesLOC283194
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)essv7020030
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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