A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8899172



Internal ID14539537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64046077..64046125hg38UCSC Ensembl
Innerchr1:64046093..64046107hg38UCSC Ensembl
Outerchr1:64046045..64046157hg38UCSC Ensembl
chr1:64511749..64511797hg19UCSC Ensembl
Innerchr1:64511765..64511779hg19UCSC Ensembl
Outerchr1:64511717..64511829hg19UCSC Ensembl
chr1:64284337..64284385hg18UCSC Ensembl
Innerchr1:64284367..64284353hg18UCSC Ensembl
Outerchr1:64284305..64284417hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376683
Supporting Variants
SamplesNA19129
Known GenesROR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8899172
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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