A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763716



Internal ID10377752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:25991818..26129220hg38UCSC Ensembl
Innerchr3:26033309..26170711hg19UCSC Ensembl
Innerchr3:26008313..26145715hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38137403
hg19137403
hg18137403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026423, essv7026389, essv7026412, essv7026400
SamplesSW_1086, SW_1322, SW_1048, SW_0761
Known Genes
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)esv2763716
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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