A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761662



Internal ID10374460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36408307..36412992hg38UCSC Ensembl
Innerchr11:36429857..36434542hg19UCSC Ensembl
Innerchr11:36386433..36391118hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg384686
hg194686
hg184686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995845
SamplesSW_1228
Known GenesPRR5L
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)esv2761662
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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