A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764017



Internal ID10378053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8919330..9190252hg38UCSC Ensembl
Innerchr7:8958960..9229882hg19UCSC Ensembl
Innerchr7:8925485..9196407hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38270923
hg19270923
hg18270923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033377, essv7033376, essv7033374, essv7033375
SamplesSW_1033, SW_0874, SW_1512, SW_1505
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)esv2764017
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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