A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444196



Internal ID15291149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154376199..154378897hg38UCSC Ensembl
Innerchr5:154377199..154377897hg38UCSC Ensembl
Outerchr5:154375199..154379897hg38UCSC Ensembl
chr5:153755759..153758457hg19UCSC Ensembl
Innerchr5:153756759..153757457hg19UCSC Ensembl
Outerchr5:153754759..153759457hg19UCSC Ensembl
chr5:153735952..153738650hg18UCSC Ensembl
Innerchr5:153736952..153737650hg18UCSC Ensembl
Outerchr5:153734952..153739650hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694619
SamplesNA19239
Known GenesGALNT10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444196
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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