A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017960



Internal ID9990651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104050851..104090136hg38UCSC Ensembl
Innerchr9:106813132..106852417hg19UCSC Ensembl
Innerchr9:105852953..105892238hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3839286
hg1939286
hg1839286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761294
Supporting Variants
SamplesRW_0152
Known GenesMIR6130
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)essv7017960
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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