A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446000



Internal ID15292950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234902382..234903680hg38UCSC Ensembl
Innerchr1:234902680..234903382hg38UCSC Ensembl
Outerchr1:234901382..234904680hg38UCSC Ensembl
chr1:235038129..235039427hg19UCSC Ensembl
Innerchr1:235038427..235039129hg19UCSC Ensembl
Outerchr1:235037129..235040427hg19UCSC Ensembl
chr1:233104752..233106050hg18UCSC Ensembl
Innerchr1:233105752..233105050hg18UCSC Ensembl
Outerchr1:233103752..233107050hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692183
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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