A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438843



Internal ID15285796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75405722..75405748hg38UCSC Ensembl
Innerchr8:75405730..75405738hg38UCSC Ensembl
Outerchr8:75405704..75405764hg38UCSC Ensembl
chr8:76317957..76317983hg19UCSC Ensembl
Innerchr8:76317965..76317973hg19UCSC Ensembl
Outerchr8:76317939..76317999hg19UCSC Ensembl
chr8:76480512..76480538hg18UCSC Ensembl
Innerchr8:76480528..76480520hg18UCSC Ensembl
Outerchr8:76480494..76480554hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8940518, essv8940519, essv8940528, essv8940520, essv8940529, essv8940525, essv8940523, essv8940527, essv8940522, essv8940526, essv8940530, essv8940521
SamplesNA18947, NA18545, NA18944, NA18960, NA18571, NA18572, NA18537, NA18555, NA18593, NA18576, NA18961, NA18609
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438843
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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