A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993646



Internal ID10371841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:15227682..15237787hg38UCSC Ensembl
Innerchr9:15227680..15237785hg19UCSC Ensembl
Innerchr9:15217680..15227785hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3810106
hg1910106
hg1810106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761504
Supporting Variants
SamplesSW_1422
Known GenesTTC39B
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)essv6993646
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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