A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761377



Internal ID10374175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:86364349..86749188hg38UCSC Ensembl
Innerchr14:86830693..87215532hg19UCSC Ensembl
Innerchr14:85900446..86285285hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38384840
hg19384840
hg18384840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998732, essv6998734
SamplesSW_1231, SW_1115
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)esv2761377
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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