A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995835



Internal ID10361654
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760599
Supporting Variants
SamplesSW_1000
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)essv6995835
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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