A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022090



Internal ID10350993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24015250..24030545hg38UCSC Ensembl
Innerchr14:24484459..24499754hg19UCSC Ensembl
Innerchr14:23554299..23569594hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3815296
hg1915296
hg1815296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760360
Supporting Variants
SamplesRW_0658
Known GenesDHRS4L1
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)essv7022090
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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