A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022064



Internal ID10349422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21582009..21587633hg38UCSC Ensembl
Innerchr14:22050143..22055757hg19UCSC Ensembl
Innerchr14:21119983..21125597hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385625
hg195615
hg185615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760362
Supporting Variants
SamplesRW_0614
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)essv7022064
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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