A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692348



Internal ID13737223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:348050..357048hg38UCSC Ensembl
Innerchr1:349050..356048hg38UCSC Ensembl
Outerchr1:347969..358048hg38UCSC Ensembl
chr1:462289..471287hg19UCSC Ensembl
Innerchr1:463289..470287hg19UCSC Ensembl
Outerchr1:461289..471368hg19UCSC Ensembl
chr1:452152..461150hg18UCSC Ensembl
Innerchr1:453152..460150hg18UCSC Ensembl
Outerchr1:451152..462150hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3381255
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692348
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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