A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840063



Internal ID13621622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146566133..146566134hg38UCSC Ensembl
Innerchr6:146566113..146566154hg38UCSC Ensembl
Outerchr6:146566112..146566155hg38UCSC Ensembl
chr6:146887269..146887270hg19UCSC Ensembl
Innerchr6:146887249..146887290hg19UCSC Ensembl
Outerchr6:146887248..146887291hg19UCSC Ensembl
chr6:146928962..146928963hg18UCSC Ensembl
Innerchr6:146928983..146928942hg18UCSC Ensembl
Outerchr6:146928941..146928984hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309255
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840063
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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