A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360519



Internal ID14860781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29977721..29977743hg38UCSC Ensembl
Innerchr6:29977720..29977742hg38UCSC Ensembl
Outerchr6:29977698..29977766hg38UCSC Ensembl
chr6:29945498..29945520hg19UCSC Ensembl
Innerchr6:29945497..29945519hg19UCSC Ensembl
Outerchr6:29945475..29945543hg19UCSC Ensembl
chr6:30053477..30053499hg18UCSC Ensembl
Innerchr6:30053498..30053476hg18UCSC Ensembl
Outerchr6:30053454..30053522hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928509, essv8928511, essv8928510, essv8928504, essv8928505, essv8928503, essv8928508, essv8928507, essv8928506
SamplesNA18861, NA12750, NA07037, NA18501, NA19093, NA18566, NA18638, NA18916, NA18909
Known GenesHCG9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360519
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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