A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9594990



Internal ID13223535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77556031..77556050hg38UCSC Ensembl
Innerchr1:77556027..77556054hg38UCSC Ensembl
Outerchr1:77556008..77556073hg38UCSC Ensembl
chr1:78021716..78021735hg19UCSC Ensembl
Innerchr1:78021712..78021739hg19UCSC Ensembl
Outerchr1:78021693..78021758hg19UCSC Ensembl
chr1:77794304..77794323hg18UCSC Ensembl
Innerchr1:77794327..77794300hg18UCSC Ensembl
Outerchr1:77794281..77794346hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336566
Supporting Variants
SamplesNA11931
Known GenesAK5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9594990
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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