A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8912532



Internal ID13383437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31169096..31169107hg38UCSC Ensembl
Innerchr3:31169086..31169114hg38UCSC Ensembl
Outerchr3:31169075..31169125hg38UCSC Ensembl
chr3:31210588..31210599hg19UCSC Ensembl
Innerchr3:31210578..31210606hg19UCSC Ensembl
Outerchr3:31210567..31210617hg19UCSC Ensembl
chr3:31185592..31185603hg18UCSC Ensembl
Innerchr3:31185610..31185582hg18UCSC Ensembl
Outerchr3:31185571..31185621hg18UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3356043
Supporting Variants
SamplesNA12144
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8912532
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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