A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7010858



Internal ID10332673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39584941..39587542hg38UCSC Ensembl
Innerchr4:39586561..39589162hg19UCSC Ensembl
Innerchr4:39262956..39265557hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382602
hg192602
hg182602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762428
Supporting Variants
SamplesRW_0028
Known GenesSMIM14, UGDH-AS1
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)essv7010858
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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