A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009471



Internal ID10335504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137311987..137314591hg38UCSC Ensembl
Innerchr3:137030829..137033433hg19UCSC Ensembl
Innerchr3:138513519..138516123hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg382605
hg192605
hg182605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760734
Supporting Variants
SamplesRW_0105
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)essv7009471
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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