A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694669



Internal ID15045875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176799245..176802243hg38UCSC Ensembl
Innerchr5:176800245..176801243hg38UCSC Ensembl
Outerchr5:176798245..176803243hg38UCSC Ensembl
chr5:176226246..176229244hg19UCSC Ensembl
Innerchr5:176227246..176228244hg19UCSC Ensembl
Outerchr5:176225246..176230244hg19UCSC Ensembl
chr5:176158852..176161850hg18UCSC Ensembl
Innerchr5:176159852..176160850hg18UCSC Ensembl
Outerchr5:176157852..176162850hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418396
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694669
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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