A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694605



Internal ID14737422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149202696..149204094hg38UCSC Ensembl
Innerchr5:149203094..149203696hg38UCSC Ensembl
Outerchr5:149201696..149205094hg38UCSC Ensembl
chr5:148582259..148583657hg19UCSC Ensembl
Innerchr5:148582657..148583259hg19UCSC Ensembl
Outerchr5:148581259..148584657hg19UCSC Ensembl
chr5:148562452..148563850hg18UCSC Ensembl
Innerchr5:148563452..148562850hg18UCSC Ensembl
Outerchr5:148561452..148564850hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375132
Supporting Variants
SamplesNA19240
Known GenesABLIM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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