A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009927



Internal ID10339458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192878276..192893244hg38UCSC Ensembl
Innerchr3:192596065..192611033hg19UCSC Ensembl
Innerchr3:194078759..194093727hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3814969
hg1914969
hg1814969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760768
Supporting Variants
SamplesRW_0200
Known GenesMB21D2
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)essv7009927
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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