A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589059



Internal ID6976476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228845231..228846451hg38UCSC Ensembl
Innerchr1:228845281..228846401hg38UCSC Ensembl
Outerchr1:228845150..228846532hg38UCSC Ensembl
chr1:228980978..228982198hg19UCSC Ensembl
Innerchr1:228981028..228982148hg19UCSC Ensembl
Outerchr1:228980897..228982279hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10314012, essv10314014, essv10314009, essv10314008, essv10314011, essv10314010, essv10314013
SamplesNA19197, NA19137, NA19437, NA18517, NA18501, NA19223, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589059
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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