A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663706



Internal ID9583125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247988616..248057085hg38UCSC Ensembl
Outerchr1:247988579..248057135hg38UCSC Ensembl
Innerchr1:248151918..248220387hg19UCSC Ensembl
Outerchr1:248151881..248220437hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3868557
hg1968557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5834153, essv6178891
SamplesHG01148, NA20510
Known GenesOR2L13, OR2L1P, OR2L2, OR2L5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663706
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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