A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998286



Internal ID10006149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18656322..19954424hg38UCSC Ensembl
Innerchr14:19432799..20422583hg19UCSC Ensembl
Innerchr14:18502799..19492423hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381298103
hg19989785
hg18989625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761533
Supporting Variants
SamplesSW_0071
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
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)essv6998286
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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