A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764132



Internal ID10378168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:102154948..102217289hg38UCSC Ensembl
Innerchr9:104917230..104979571hg19UCSC Ensembl
Innerchr9:103957051..104019392hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3862342
hg1962342
hg1862342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994350, essv6994349, essv6994351
SamplesSW_1286, SW_1122, SW_1428
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)esv2764132
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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