A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764245



Internal ID10378281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241409546..241414238hg38UCSC Ensembl
Innerchr1:241572846..241577538hg19UCSC Ensembl
Innerchr1:239639469..239644161hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384693
hg194693
hg184693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007026, essv7007024, essv7007027, essv7007025
SamplesRW_0544, RW_0140, RW_0222, RW_0073
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)esv2764245
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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