A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762816



Internal ID10375614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62862781..62929035hg38UCSC Ensembl
Innerchr9:66518605..66584859hg19UCSC Ensembl
Innerchr9:66258425..66324679hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3866255
hg1966255
hg1866255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017797
SamplesRW_0281
Known GenesMGC21881
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)esv2762816
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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