A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383398



Internal ID15230368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129699942..129699977hg38UCSC Ensembl
Innerchr8:129699940..129699979hg38UCSC Ensembl
Outerchr8:129699905..129700014hg38UCSC Ensembl
chr8:130712188..130712223hg19UCSC Ensembl
Innerchr8:130712186..130712225hg19UCSC Ensembl
Outerchr8:130712151..130712260hg19UCSC Ensembl
chr8:130781370..130781405hg18UCSC Ensembl
Innerchr8:130781407..130781368hg18UCSC Ensembl
Outerchr8:130781333..130781442hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677004
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383398
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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