A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305106



Internal ID15152054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81350701..81350702hg38UCSC Ensembl
Innerchr8:81350676..81350727hg38UCSC Ensembl
Outerchr8:81350675..81350728hg38UCSC Ensembl
chr8:82262936..82262937hg19UCSC Ensembl
Innerchr8:82262911..82262962hg19UCSC Ensembl
Outerchr8:82262910..82262963hg19UCSC Ensembl
chr8:82425491..82425492hg18UCSC Ensembl
Innerchr8:82425517..82425466hg18UCSC Ensembl
Outerchr8:82425465..82425518hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38157
hg19157
hg18157
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741239, essv7741071, essv7758791, essv7745176, essv7760114, essv7752947, essv7743758, essv7741683, essv7741877, essv7749491, essv7762139, essv7762688, essv7746846, essv7748248, essv7755991, essv7763179, essv7760285, essv7744527, essv7750308, essv7753442, essv7750505, essv7740487, essv7757984, essv7746130, essv7745428
SamplesNA18502, NA18603, NA18545, NA18504, NA18489, NA18547, NA19138, NA18498, NA19239, NA19210, NA18516, NA18572, NA18907, NA18573, NA18532, NA19099, NA19257, NA19147, NA18517, NA19240, NA18501, NA19102, NA19116, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305106
Frequency
Sample Size185
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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