A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694611



Internal ID15045981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150340796..150342894hg38UCSC Ensembl
Innerchr5:150341796..150341894hg38UCSC Ensembl
Outerchr5:150339796..150343894hg38UCSC Ensembl
chr5:149720359..149722457hg19UCSC Ensembl
Innerchr5:149721359..149721457hg19UCSC Ensembl
Outerchr5:149719359..149723457hg19UCSC Ensembl
chr5:149700552..149702650hg18UCSC Ensembl
Innerchr5:149701552..149701650hg18UCSC Ensembl
Outerchr5:149699552..149703650hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396793
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694611
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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