A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026277



Internal ID10368869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:21199931..21302104hg38UCSC Ensembl
Innerchr3:21241423..21343596hg19UCSC Ensembl
Innerchr3:21216427..21318600hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38102174
hg19102174
hg18102174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763778
Supporting Variants
SamplesSW_1284
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)essv7026277
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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