A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019998



Internal ID9987586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55661931..55836215hg38UCSC Ensembl
Innerchr11:55429407..55603691hg19UCSC Ensembl
Innerchr11:55185983..55360267hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38174285
hg19174285
hg18174285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760216
Supporting Variants
SamplesRW_0071
Known GenesOR4C6, OR5D13, OR5D14, OR5D18, OR5L1, OR5L2
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)essv7019998
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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