A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760360



Internal ID10376668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960089..24031792hg38UCSC Ensembl
Innerchr14:24429298..24501001hg19UCSC Ensembl
Innerchr14:23499138..23570841hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871704
hg1971704
hg1871704
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36e203
Supporting Variantsessv7022086, essv7022081, essv7022082, essv7022076, essv7022075, essv7022090, essv7022087, essv7022079, essv7022084, essv7022085, essv7022088, essv7022083, essv7022080
SamplesRW_0071, RW_0148, RW_0101, RW_0658, RW_0255, RW_0525, RW_0049, RW_0241, RW_0003, RW_0666, RW_0622, RW_0235, RW_0220
Known GenesDHRS4, DHRS4L1, DHRS4L2
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)esv2760360
Frequency
Sample Size1109
Observed Gain2
Observed Loss11
Observed Complex0
Frequencyn/a


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