A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742645



Internal ID14665353
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 StatusS
Merged Variantsesv3304877
Supporting Variants
SamplesNA18964
Known GenesASB17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742645
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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