A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449065



Internal ID15296014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234775982..234820580hg38UCSC Ensembl
Innerchr1:234776982..234819580hg38UCSC Ensembl
Outerchr1:234774982..234821580hg38UCSC Ensembl
chr1:234911729..234956327hg19UCSC Ensembl
Innerchr1:234912729..234955327hg19UCSC Ensembl
Outerchr1:234910729..234957327hg19UCSC Ensembl
chr1:232978352..233022950hg18UCSC Ensembl
Innerchr1:232979352..233021950hg18UCSC Ensembl
Outerchr1:232977352..233023950hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3844599
hg1944599
hg1844599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv314e59
Supporting Variantsessv8692171
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449065
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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