A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589529



Internal ID6629818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247988595..248057111hg38UCSC Ensembl
Innerchr1:247988601..248057106hg38UCSC Ensembl
Outerchr1:247988590..248057117hg38UCSC Ensembl
chr1:248151897..248220413hg19UCSC Ensembl
Innerchr1:248151903..248220408hg19UCSC Ensembl
Outerchr1:248151892..248220419hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3868517
hg1968517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10374347, essv10374346, essv10374348, essv10374345
SamplesHG01275, HG01360, HG01148, NA20510
Known GenesOR2L13, OR2L1P, OR2L2, OR2L5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589529
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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