A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431289



Internal ID14931559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63957745..63957759hg38UCSC Ensembl
Innerchr1:63957752..63957752hg38UCSC Ensembl
Outerchr1:63957738..63957766hg38UCSC Ensembl
chr1:64423416..64423430hg19UCSC Ensembl
Innerchr1:64423423..64423423hg19UCSC Ensembl
Outerchr1:64423409..64423437hg19UCSC Ensembl
chr1:64196004..64196018hg18UCSC Ensembl
Innerchr1:64196011..64196011hg18UCSC Ensembl
Outerchr1:64195997..64196025hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863711
SamplesNA12005
Known GenesROR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431289
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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