A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022514



Internal ID10004526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106696253..106771982hg38UCSC Ensembl
Innerchr14:107152270..107180224hg19UCSC Ensembl
Innerchr14:106223315..106251269hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3875730
hg1927955
hg1827955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760346
Supporting Variants
SamplesRW_0664
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)essv7022514
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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