A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999148



Internal ID10371352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106466606..106487827hg38UCSC Ensembl
Innerchr14:106922531..106943834hg19UCSC Ensembl
Innerchr14:105993576..106014879hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3821222
hg1921304
hg1821304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761366
Supporting Variants
SamplesSW_1400
Known GenesLINC00221
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)essv6999148
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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