A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998448



Internal ID10367215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23955933..24031792hg38UCSC Ensembl
Innerchr14:24425142..24501001hg19UCSC Ensembl
Innerchr14:23494982..23570841hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3875860
hg1975860
hg1875860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761633
Supporting Variants
SamplesSW_1212
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)essv6998448
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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