A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344150



Internal ID15191134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176799245..176802143hg38UCSC Ensembl
Innerchr5:176800245..176801143hg38UCSC Ensembl
Outerchr5:176798245..176803143hg38UCSC Ensembl
chr5:176226246..176229144hg19UCSC Ensembl
Innerchr5:176227246..176228144hg19UCSC Ensembl
Outerchr5:176225246..176230144hg19UCSC Ensembl
chr5:176158852..176161750hg18UCSC Ensembl
Innerchr5:176159852..176160750hg18UCSC Ensembl
Outerchr5:176157852..176162750hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3428e59
Supporting Variantsessv8694668
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344150
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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