A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653479



Internal ID15065240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12514281..12514281hg38UCSC Ensembl
Innerchr6:12514280..12514282hg38UCSC Ensembl
Outerchr6:12514231..12514331hg38UCSC Ensembl
chr6:12514513..12514513hg19UCSC Ensembl
Innerchr6:12514512..12514514hg19UCSC Ensembl
Outerchr6:12514463..12514563hg19UCSC Ensembl
chr6:12622499..12622499hg18UCSC Ensembl
Innerchr6:12622500..12622498hg18UCSC Ensembl
Outerchr6:12622449..12622549hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38401
hg19401
hg18401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3429372
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653479
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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