A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008957



Internal ID10344624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37940617..37945437hg38UCSC Ensembl
Innerchr3:37982108..37986928hg19UCSC Ensembl
Innerchr3:37957112..37961932hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg384821
hg194821
hg184821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760795
Supporting Variants
SamplesRW_0346
Known GenesCTDSPL
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)essv7008957
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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