A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998475



Internal ID10359347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34322873..34370546hg38UCSC Ensembl
Innerchr14:34792079..34839752hg19UCSC Ensembl
Innerchr14:33861830..33909503hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3847674
hg1947674
hg1847674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761577
Supporting Variants
SamplesSW_0762
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)essv6998475
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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