A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304877



Internal ID15151825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75927282..75927283hg38UCSC Ensembl
Innerchr1:75927242..75927323hg38UCSC Ensembl
Outerchr1:75927241..75927324hg38UCSC Ensembl
chr1:76392967..76392968hg19UCSC Ensembl
Innerchr1:76392927..76393008hg19UCSC Ensembl
Outerchr1:76392926..76393009hg19UCSC Ensembl
chr1:76165555..76165556hg18UCSC Ensembl
Innerchr1:76165596..76165515hg18UCSC Ensembl
Outerchr1:76165514..76165597hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750749, essv7760135, essv7741134, essv7757103, essv7744152, essv7752563, essv7742645, essv7761089
SamplesNA12004, NA18510, NA07346, NA18964, NA12003, NA18517, NA07037, NA18501
Known GenesASB17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304877
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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