A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022305



Internal ID10344407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105578033..105701324hg38UCSC Ensembl
Innerchr14:106044370..106167661hg19UCSC Ensembl
Innerchr14:105115415..105238706hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38123292
hg19123292
hg18123292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760328
Supporting Variants
SamplesRW_0334
Known GenesELK2AP, MIR8071-1, MIR8071-2
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)essv7022305
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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