A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305358



Internal ID14805620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64046082..64046083hg38UCSC Ensembl
Innerchr1:64046029..64046136hg38UCSC Ensembl
Outerchr1:64046028..64046137hg38UCSC Ensembl
chr1:64511754..64511755hg19UCSC Ensembl
Innerchr1:64511701..64511808hg19UCSC Ensembl
Outerchr1:64511700..64511809hg19UCSC Ensembl
chr1:64284342..64284343hg18UCSC Ensembl
Innerchr1:64284396..64284289hg18UCSC Ensembl
Outerchr1:64284288..64284397hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758865
SamplesNA19129
Known GenesROR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305358
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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