A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415973



Internal ID15262932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234775782..234816580hg38UCSC Ensembl
Innerchr1:234776782..234815580hg38UCSC Ensembl
Outerchr1:234774782..234817580hg38UCSC Ensembl
chr1:234911529..234952327hg19UCSC Ensembl
Innerchr1:234912529..234951327hg19UCSC Ensembl
Outerchr1:234910529..234953327hg19UCSC Ensembl
chr1:232978152..233018950hg18UCSC Ensembl
Innerchr1:232979152..233017950hg18UCSC Ensembl
Outerchr1:232977152..233019950hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3840799
hg1940799
hg1840799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv314e59
Supporting Variantsessv8692167
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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