A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305855



Internal ID14806117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148213571..148213572hg38UCSC Ensembl
Innerchr6:148213532..148213611hg38UCSC Ensembl
Outerchr6:148213531..148213612hg38UCSC Ensembl
chr6:148534707..148534708hg19UCSC Ensembl
Innerchr6:148534668..148534747hg19UCSC Ensembl
Outerchr6:148534667..148534748hg19UCSC Ensembl
chr6:148576400..148576401hg18UCSC Ensembl
Innerchr6:148576440..148576361hg18UCSC Ensembl
Outerchr6:148576360..148576441hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740806, essv7757127, essv7760978, essv7751365, essv7742826, essv7751978, essv7761096
SamplesNA11920, NA07346, NA11992, NA12156, NA12003, NA12716, NA12763
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305855
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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