A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8916371



Internal ID14910467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:165785982..165786019hg38UCSC Ensembl
Innerchr3:165785994..165786007hg38UCSC Ensembl
Outerchr3:165785957..165786044hg38UCSC Ensembl
chr3:165503770..165503807hg19UCSC Ensembl
Innerchr3:165503782..165503795hg19UCSC Ensembl
Outerchr3:165503745..165503832hg19UCSC Ensembl
chr3:166986464..166986501hg18UCSC Ensembl
Innerchr3:166986489..166986476hg18UCSC Ensembl
Outerchr3:166986439..166986526hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324020
Supporting Variants
SamplesNA19138
Known GenesBCHE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8916371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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