A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029253



Internal ID10370701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49141246..49307837hg38UCSC Ensembl
Innerchr4:49143263..49309854hg19UCSC Ensembl
Innerchr4:48838020..49004611hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38166592
hg19166592
hg18166592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763793
Supporting Variants
SamplesSW_1371
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)essv7029253
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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