A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007148



Internal ID9996672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585893..248633912hg38UCSC Ensembl
Innerchr1:248749194..248797213hg19UCSC Ensembl
Innerchr1:246815817..246863836hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848020
hg1948020
hg1848020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760083
Supporting Variants
SamplesRW_0300
Known GenesOR2T10, OR2T11
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)essv7007148
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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