A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330145



Internal ID15177132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54726768..54726796hg38UCSC Ensembl
Innerchr8:54726773..54726789hg38UCSC Ensembl
Outerchr8:54726747..54726817hg38UCSC Ensembl
chr8:55639328..55639356hg19UCSC Ensembl
Innerchr8:55639333..55639349hg19UCSC Ensembl
Outerchr8:55639307..55639377hg19UCSC Ensembl
chr8:55801882..55801910hg18UCSC Ensembl
Innerchr8:55801903..55801887hg18UCSC Ensembl
Outerchr8:55801861..55801931hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8939950, essv8939946, essv8939948, essv8939943, essv8939945, essv8939949, essv8939944
SamplesNA18861, NA18870, NA19138, NA18499, NA18856, NA18909, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330145
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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