A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671376



Internal ID15027390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345539..53345663hg38UCSC Ensembl
Innerchr6:53345546..53345656hg38UCSC Ensembl
Outerchr6:53345532..53345670hg38UCSC Ensembl
chr6:53210337..53210461hg19UCSC Ensembl
Innerchr6:53210344..53210454hg19UCSC Ensembl
Outerchr6:53210330..53210468hg19UCSC Ensembl
chr6:53318296..53318420hg18UCSC Ensembl
Innerchr6:53318303..53318413hg18UCSC Ensembl
Outerchr6:53318289..53318427hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3359371
Supporting Variants
SamplesNA19238
Known GenesELOVL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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