A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694953



Internal ID13697580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76336271..76340769hg38UCSC Ensembl
Innerchr5:76337271..76339769hg38UCSC Ensembl
Outerchr5:76335271..76341769hg38UCSC Ensembl
chr5:75632096..75636594hg19UCSC Ensembl
Innerchr5:75633096..75635594hg19UCSC Ensembl
Outerchr5:75631096..75637594hg19UCSC Ensembl
chr5:75667852..75672350hg18UCSC Ensembl
Innerchr5:75668852..75671350hg18UCSC Ensembl
Outerchr5:75666852..75673350hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384499
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3362900
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694953
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer