A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9597947



Internal ID13258462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206946325..206946344hg38UCSC Ensembl
Innerchr1:206946321..206946348hg38UCSC Ensembl
Outerchr1:206946302..206946367hg38UCSC Ensembl
chr1:207119670..207119689hg19UCSC Ensembl
Innerchr1:207119666..207119693hg19UCSC Ensembl
Outerchr1:207119647..207119712hg19UCSC Ensembl
chr1:205186293..205186312hg18UCSC Ensembl
Innerchr1:205186316..205186289hg18UCSC Ensembl
Outerchr1:205186270..205186335hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375038
Supporting Variants
SamplesNA12814
Known GenesPIGR
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9597947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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