A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760599



Internal ID10376906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:25165438..26137903hg38UCSC Ensembl
Innerchr11:25186984..26159450hg19UCSC Ensembl
Innerchr11:25143560..26116026hg18UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38972466
hg19972467
hg18972467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995835, essv6995836, essv6995840, essv6995838, essv6995839, essv6995837
SamplesSW_1000, SW_1097, SW_0661, SW_0203, SW_0663, SW_0169
Known Genes
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)esv2760599
Frequency
Sample Size1109
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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