A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998668



Internal ID10011857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534419..73564788hg38UCSC Ensembl
Innerchr14:74001123..74031492hg19UCSC Ensembl
Innerchr14:73070876..73101245hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3830370
hg1930370
hg1830370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761566
Supporting Variants
SamplesSW_0660
Known GenesACOT1, HEATR4
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)essv6998668
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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