A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589149



Internal ID6972084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233459151..233468758hg38UCSC Ensembl
Innerchr1:233459171..233468739hg38UCSC Ensembl
Outerchr1:233459132..233468778hg38UCSC Ensembl
chr1:233594897..233604504hg19UCSC Ensembl
Innerchr1:233594917..233604485hg19UCSC Ensembl
Outerchr1:233594878..233604524hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg389608
hg199608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10325382
SamplesHG02087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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