A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438416



Internal ID15285369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81350702..81350709hg38UCSC Ensembl
Innerchr8:81350695..81350716hg38UCSC Ensembl
Outerchr8:81350688..81350723hg38UCSC Ensembl
chr8:82262937..82262944hg19UCSC Ensembl
Innerchr8:82262930..82262951hg19UCSC Ensembl
Outerchr8:82262923..82262958hg19UCSC Ensembl
chr8:82425492..82425499hg18UCSC Ensembl
Innerchr8:82425506..82425485hg18UCSC Ensembl
Outerchr8:82425478..82425513hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8940704, essv8940705, essv8940707, essv8940693, essv8940708, essv8940711, essv8940696, essv8940710, essv8940695, essv8940699, essv8940694, essv8940690, essv8940706, essv8940703, essv8940709, essv8940697, essv8940688, essv8940701, essv8940689, essv8940698, essv8940692, essv8940712, essv8940700
SamplesNA18502, NA18603, NA18545, NA18504, NA18489, NA18547, NA19138, NA18498, NA19210, NA18516, NA18572, NA18907, NA18573, NA18532, NA19099, NA19257, NA19147, NA18517, NA18501, NA19102, NA19116, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438416
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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