A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998462



Internal ID10357219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23982222..24020229hg38UCSC Ensembl
Innerchr14:24451431..24489438hg19UCSC Ensembl
Innerchr14:23521271..23559278hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3838008
hg1938008
hg1838008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761633
Supporting Variants
SamplesSW_0590
Known GenesDHRS4L1, 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)essv6998462
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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