A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998746



Internal ID10015338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104322776..104471983hg38UCSC Ensembl
Innerchr14:104789113..104938320hg19UCSC Ensembl
Innerchr14:103860158..104009365hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38149208
hg19149208
hg18149208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761599
Supporting Variants
SamplesSW_1021
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)essv6998746
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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