A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336566



Internal ID15183554
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 StatusM
Merged Variants
Supporting Variantsessv9594990
SamplesNA11931
Known GenesAK5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336566
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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