A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764141



Internal ID10031491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:16903448..17351713hg38UCSC Ensembl
Innerchr9:16903446..17351711hg19UCSC Ensembl
Innerchr9:16893446..17341711hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38448266
hg19448266
hg18448266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993649, essv6993651, essv6993650
SamplesSW_0091, SW_1469, SW_0200
Known GenesCNTLN
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)esv2764141
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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