A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838340



Internal ID13698251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13718232..13718233hg38UCSC Ensembl
Innerchr6:13718197..13718268hg38UCSC Ensembl
Outerchr6:13718196..13718269hg38UCSC Ensembl
chr6:13718464..13718465hg19UCSC Ensembl
Innerchr6:13718429..13718500hg19UCSC Ensembl
Outerchr6:13718428..13718501hg19UCSC Ensembl
chr6:13826443..13826444hg18UCSC Ensembl
Innerchr6:13826479..13826408hg18UCSC Ensembl
Outerchr6:13826407..13826480hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309359
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838340
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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