A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7758528



Internal ID14421419
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 StatusS
Merged Variantsesv3307210
Supporting Variants
SamplesNA18909
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7758528
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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