A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998751



Internal ID10365536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105578033..105691429hg38UCSC Ensembl
Innerchr14:106044370..106157766hg19UCSC Ensembl
Innerchr14:105115415..105228811hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38113397
hg19113397
hg18113397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761499
Supporting Variants
SamplesSW_1142
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)essv6998751
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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