A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764165



Internal ID10378201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5100291..5228445hg38UCSC Ensembl
Innerchr9:5100291..5228445hg19UCSC Ensembl
Innerchr9:5090291..5218445hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38128155
hg19128155
hg18128155
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993527, essv6993528
SamplesSW_0008, SW_0197
Known GenesINSL6, JAK2
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)esv2764165
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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