A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306539



Internal ID14806801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45358096..45358097hg38UCSC Ensembl
Innerchr6:45358053..45358140hg38UCSC Ensembl
Outerchr6:45358052..45358141hg38UCSC Ensembl
chr6:45325833..45325834hg19UCSC Ensembl
Innerchr6:45325790..45325877hg19UCSC Ensembl
Outerchr6:45325789..45325878hg19UCSC Ensembl
chr6:45433811..45433812hg18UCSC Ensembl
Innerchr6:45433855..45433768hg18UCSC Ensembl
Outerchr6:45433767..45433856hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386011
hg196011
hg186011
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749229, essv7751444, essv7743083, essv7763231, essv7741800
SamplesNA18507, NA18856, NA18916, NA18502, NA18907
Known GenesRUNX2, SUPT3H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306539
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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