A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9622969



Internal ID13420029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82357080..82357099hg38UCSC Ensembl
Innerchr5:82357076..82357103hg38UCSC Ensembl
Outerchr5:82357057..82357122hg38UCSC Ensembl
chr5:81652899..81652918hg19UCSC Ensembl
Innerchr5:81652895..81652922hg19UCSC Ensembl
Outerchr5:81652876..81652941hg19UCSC Ensembl
chr5:81688655..81688674hg18UCSC Ensembl
Innerchr5:81688678..81688651hg18UCSC Ensembl
Outerchr5:81688632..81688697hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397169
Supporting Variants
SamplesNA12234
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9622969
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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