A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760326



Internal ID10376634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:97662843..97674343hg38UCSC Ensembl
Innerchr14:98129180..98140680hg19UCSC Ensembl
Innerchr14:97198933..97210433hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3811501
hg1911501
hg1811501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022278, essv7022279
SamplesRW_0138, RW_0508
Known GenesLOC100129345
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)esv2760326
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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