A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022045



Internal ID10339205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20893877..20957189hg38UCSC Ensembl
Innerchr14:21362036..21425348hg19UCSC Ensembl
Innerchr14:20431876..20495188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3863313
hg1963313
hg1863313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760325
Supporting Variants
SamplesRW_0194
Known GenesECRP, RNASE2
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)essv7022045
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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