A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017597



Internal ID10003044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:11992006..12007006hg38UCSC Ensembl
Innerchr9:11992006..12007006hg19UCSC Ensembl
Innerchr9:11982006..11997006hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3815001
hg1915001
hg1815001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761283
Supporting Variants
SamplesRW_0621
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)essv7017597
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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