A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998463



Internal ID10371974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23982222..24031436hg38UCSC Ensembl
Innerchr14:24451431..24500645hg19UCSC Ensembl
Innerchr14:23521271..23570485hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3849215
hg1949215
hg1849215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761633
Supporting Variants
SamplesSW_1425
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)essv6998463
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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