A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691000



Internal ID15060767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72557118..72558116hg38UCSC Ensembl
Innerchr17:72557117..72558117hg38UCSC Ensembl
Outerchr17:72556118..72559116hg38UCSC Ensembl
chr17:70553257..70554255hg19UCSC Ensembl
Innerchr17:70553256..70554256hg19UCSC Ensembl
Outerchr17:70552257..70555255hg19UCSC Ensembl
chr17:68064852..68065850hg18UCSC Ensembl
Innerchr17:68065851..68064851hg18UCSC Ensembl
Outerchr17:68063852..68066850hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336594
Supporting Variants
SamplesNA19239
Known GenesLINC00673
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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