A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307210



Internal ID15154158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74650989..74650990hg38UCSC Ensembl
Innerchr6:74650947..74651032hg38UCSC Ensembl
Outerchr6:74650946..74651033hg38UCSC Ensembl
chr6:75360705..75360706hg19UCSC Ensembl
Innerchr6:75360663..75360748hg19UCSC Ensembl
Outerchr6:75360662..75360749hg19UCSC Ensembl
chr6:75417425..75417426hg18UCSC Ensembl
Innerchr6:75417468..75417383hg18UCSC Ensembl
Outerchr6:75417382..75417469hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754020, essv7761474, essv7759009, essv7744044, essv7758528
SamplesNA18508, NA18510, NA18499, NA18853, NA18909
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307210
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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