A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009829



Internal ID10344581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176081884..176147937hg38UCSC Ensembl
Innerchr3:175799672..175865725hg19UCSC Ensembl
Innerchr3:177282366..177348419hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3866054
hg1966054
hg1866054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760787
Supporting Variants
SamplesRW_0345
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)essv7009829
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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