A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763751



Internal ID10377787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60086233..60306583hg38UCSC Ensembl
Innerchr3:60071959..60292312hg19UCSC Ensembl
Innerchr3:60046999..60267352hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38220351
hg19220354
hg18220354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027233, essv7027234
SamplesSW_1236, SW_1471
Known GenesFHIT
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)esv2763751
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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