A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015078



Internal ID10356220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81976082..82087496hg38UCSC Ensembl
Innerchr2:82203206..82314620hg19UCSC Ensembl
Innerchr2:82056717..82168131hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38111415
hg19111415
hg18111415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763645
Supporting Variants
SamplesSW_0354
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)essv7015078
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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