A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737653



Internal ID13608880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53345601..53345602hg38UCSC Ensembl
Outerchr6:53345437..53345767hg38UCSC Ensembl
Innerchr6:53210399..53210400hg19UCSC Ensembl
Outerchr6:53210235..53210565hg19UCSC Ensembl
Innerchr6:53318359..53318358hg18UCSC Ensembl
Outerchr6:53318194..53318524hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302813
Supporting Variants
SamplesNA12828
Known GenesELOVL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737653
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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