A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303713



Internal ID15150661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38565501..38565502hg38UCSC Ensembl
Innerchr6:38565463..38565540hg38UCSC Ensembl
Outerchr6:38565462..38565541hg38UCSC Ensembl
chr6:38533277..38533278hg19UCSC Ensembl
Innerchr6:38533239..38533316hg19UCSC Ensembl
Outerchr6:38533238..38533317hg19UCSC Ensembl
chr6:38641255..38641256hg18UCSC Ensembl
Innerchr6:38641294..38641217hg18UCSC Ensembl
Outerchr6:38641216..38641295hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763128, essv7758834, essv7752225
SamplesNA18907, NA06986, NA19129
Known GenesBTBD9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303713
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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