A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430353



Internal ID14930623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16464190..16464209hg38UCSC Ensembl
Innerchr5:16464186..16464213hg38UCSC Ensembl
Outerchr5:16464167..16464232hg38UCSC Ensembl
chr5:16464299..16464318hg19UCSC Ensembl
Innerchr5:16464295..16464322hg19UCSC Ensembl
Outerchr5:16464276..16464341hg19UCSC Ensembl
chr5:16517299..16517318hg18UCSC Ensembl
Innerchr5:16517322..16517295hg18UCSC Ensembl
Outerchr5:16517276..16517341hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9621092
SamplesNA12814
Known GenesZNF622
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430353
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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