A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678239



Internal ID13316131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77429888..77429907hg38UCSC Ensembl
Innerchr17:77429884..77429911hg38UCSC Ensembl
Outerchr17:77429865..77429930hg38UCSC Ensembl
chr17:75425970..75425989hg19UCSC Ensembl
Innerchr17:75425966..75425993hg19UCSC Ensembl
Outerchr17:75425947..75426012hg19UCSC Ensembl
chr17:72937565..72937584hg18UCSC Ensembl
Innerchr17:72937588..72937561hg18UCSC Ensembl
Outerchr17:72937542..72937607hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449329
Supporting Variants
SamplesNA12878
Known GenesSEPT9
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678239
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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