A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303415



Internal ID14803677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29977717..29977718hg38UCSC Ensembl
Innerchr6:29977684..29977751hg38UCSC Ensembl
Outerchr6:29977683..29977752hg38UCSC Ensembl
chr6:29945494..29945495hg19UCSC Ensembl
Innerchr6:29945461..29945528hg19UCSC Ensembl
Outerchr6:29945460..29945529hg19UCSC Ensembl
chr6:30053473..30053474hg18UCSC Ensembl
Innerchr6:30053507..30053440hg18UCSC Ensembl
Outerchr6:30053439..30053508hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758509, essv7756577, essv7761772, essv7755221, essv7750935, essv7749858, essv7750302, essv7760004, essv7752622, essv7743338, essv7746077, essv7754622
SamplesNA18861, NA12750, NA07037, NA18501, NA19093, NA19239, NA18566, NA18638, NA18916, NA19238, NA18909, NA19240
Known GenesHCG9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303415
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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