A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761281



Internal ID10377588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126213032..126224800hg38UCSC Ensembl
Innerchr9:128975311..128987079hg19UCSC Ensembl
Innerchr9:128015132..128026900hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3811769
hg1911769
hg1811769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018091, essv7018081, essv7018093, essv7018102, essv7018087, essv7018083, essv7018082, essv7018085, essv7018103, essv7018090, essv7018097, essv7018080, essv7018101, essv7018086, essv7018084, essv7018106, essv7018098, essv7018095, essv7018088, essv7018104, essv7018105, essv7018094, essv7018099, essv7018092, essv7018096
SamplesRW_0071, RW_0148, RW_0039, RW_0239, RW_0359, RW_0152, RW_0189, RW_0180, RW_0025, RW_0011, RW_0254, RW_0137, RW_0023, RW_0545, RW_0648, RW_0085, RW_0029, RW_0250, RW_0529, RW_0238, RW_0070, RW_0028, RW_0063, RW_0207, RW_0047
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)esv2761281
Frequency
Sample Size1109
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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