A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006789



Internal ID10022032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248650779hg38UCSC Ensembl
Innerchr1:248732033..248814080hg19UCSC Ensembl
Innerchr1:246798656..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3882048
hg1982048
hg1882048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763780
Supporting Variants
SamplesSW_1279
Known GenesOR2T10, OR2T11, OR2T27, OR2T34, OR2T35
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)essv7006789
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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