A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027414



Internal ID10371708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75377956..75500795hg38UCSC Ensembl
Innerchr3:75427107..75549946hg19UCSC Ensembl
Innerchr3:75509797..75632636hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38122840
hg19122840
hg18122840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763755
Supporting Variants
SamplesSW_1414
Known GenesFAM86DP
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)essv7027414
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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