A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338987



Internal ID15185974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126187893..126187905hg38UCSC Ensembl
Innerchr6:126187884..126187911hg38UCSC Ensembl
Outerchr6:126187872..126187926hg38UCSC Ensembl
chr6:126509039..126509051hg19UCSC Ensembl
Innerchr6:126509030..126509057hg19UCSC Ensembl
Outerchr6:126509018..126509072hg19UCSC Ensembl
chr6:126550732..126550744hg18UCSC Ensembl
Innerchr6:126550750..126550723hg18UCSC Ensembl
Outerchr6:126550711..126550765hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8932908, essv8932910, essv8932919, essv8932909, essv8932916, essv8932917, essv8932921, essv8932913, essv8932922, essv8932920, essv8932918, essv8932911, essv8932912, essv8932915
SamplesNA18502, NA18861, NA18916, NA19172, NA19114, NA18856, NA18853, NA18858, NA19108, NA19147, NA18501, NA19116, NA18505, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338987
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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