A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761719



Internal ID10029069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:126950790..127014459hg38UCSC Ensembl
Innerchr11:126820686..126884354hg19UCSC Ensembl
Innerchr11:126325896..126389564hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3863670
hg1963669
hg1863669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996336
SamplesSW_1026
Known GenesKIRREL3, KIRREL3-AS3, MIR3167
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)esv2761719
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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