A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762822



Internal ID10375620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87130108..87143775hg38UCSC Ensembl
Innerchr9:89745023..89758690hg19UCSC Ensembl
Innerchr9:88934843..88948510hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3813668
hg1913668
hg1813668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017946
SamplesRW_0095
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)esv2762822
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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