A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760807



Internal ID10028169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194671251..194719179hg38UCSC Ensembl
Innerchr3:194391980..194439908hg19UCSC Ensembl
Innerchr3:195873269..195921197hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3847929
hg1947929
hg1847929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010035, essv7010031, essv7010036, essv7010032, essv7010037, essv7010034
SamplesRW_0246, RW_0293, RW_0193, RW_0068
Known GenesFAM43A, LOC100507391, LSG1
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)esv2760807
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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