A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694955



Internal ID13697656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76341271..76350869hg38UCSC Ensembl
Innerchr5:76342271..76349869hg38UCSC Ensembl
Outerchr5:76340271..76351869hg38UCSC Ensembl
chr5:75637096..75646694hg19UCSC Ensembl
Innerchr5:75638096..75645694hg19UCSC Ensembl
Outerchr5:75636096..75647694hg19UCSC Ensembl
chr5:75672852..75682450hg18UCSC Ensembl
Innerchr5:75673852..75681450hg18UCSC Ensembl
Outerchr5:75671852..75683450hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg389599
hg199599
hg189599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3326642
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694955
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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