A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762437



Internal ID10029787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28985273..28988573hg38UCSC Ensembl
Innerchr2:29208139..29211439hg19UCSC Ensembl
Innerchr2:29061643..29064943hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383301
hg193301
hg183301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010900
SamplesSW_0121
Known GenesFAM179A
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)esv2762437
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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