A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760328



Internal ID10376636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105541843..105758187hg38UCSC Ensembl
Innerchr14:106008180..106224524hg19UCSC Ensembl
Innerchr14:105079225..105295569hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38216345
hg19216345
hg18216345
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39e203
Supporting Variantsessv7022317, essv7022310, essv7022318, essv7022312, essv7022301, essv7022306, essv7022305, essv7022315, essv7022308, essv7022303, essv7022307, essv7022302, essv7022304, essv7022309, essv7022316, essv7022314, essv7022313, essv7022319
SamplesRW_0586, RW_0098, RW_0334, RW_0216, RW_0017, RW_0024, RW_0185, RW_0593, RW_0091, RW_0251, RW_0008, RW_0193, RW_0166, RW_0669, RW_0229, RW_0170, RW_0110, RW_0630
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)esv2760328
Frequency
Sample Size1109
Observed Gain11
Observed Loss7
Observed Complex0
Frequencyn/a


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