A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691923



Internal ID13389137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148594130..148745626hg38UCSC Ensembl
Innerchr1:148595130..148744626hg38UCSC Ensembl
Outerchr1:148593130..148745910hg38UCSC Ensembl
chr1:145143595..145294993hg19UCSC Ensembl
Innerchr1:145144595..145293993hg19UCSC Ensembl
Outerchr1:145142595..145295993hg19UCSC Ensembl
chr1:143854952..144006350hg18UCSC Ensembl
Innerchr1:143855952..144005350hg18UCSC Ensembl
Outerchr1:143853952..144007350hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38151497
hg19151399
hg18151399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3380232
Supporting Variants
SamplesNA12892
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691923
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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