A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762372



Internal ID10375170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190396945..190432410hg38UCSC Ensembl
Innerchr3:190114734..190150199hg19UCSC Ensembl
Innerchr3:191597428..191632893hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3835466
hg1935466
hg1835466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009924
SamplesRW_0523
Known GenesCLDN16, TMEM207
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)esv2762372
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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