A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007039



Internal ID9993527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248442451..248478955hg38UCSC Ensembl
Innerchr1:248605752..248642256hg19UCSC Ensembl
Innerchr1:246672375..246708879hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3836505
hg1936505
hg1836505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760083
Supporting Variants
SamplesRW_0216
Known GenesOR2T2, OR2T3
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)essv7007039
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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