A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763827



Internal ID10377863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38451680..38468085hg38UCSC Ensembl
Innerchr4:38453301..38469706hg19UCSC Ensembl
Innerchr4:38129696..38146101hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3816406
hg1916406
hg1816406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029233, essv7029234, essv7029232, essv7029231, essv7029230
SamplesSW_0835, SW_0185, SW_1220, SW_0120, SW_0144
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)esv2763827
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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