A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305015



Internal ID14805277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80490955..80490956hg38UCSC Ensembl
Innerchr8:80490875..80491036hg38UCSC Ensembl
Outerchr8:80490874..80491037hg38UCSC Ensembl
chr8:81403190..81403191hg19UCSC Ensembl
Innerchr8:81403110..81403271hg19UCSC Ensembl
Outerchr8:81403109..81403272hg19UCSC Ensembl
chr8:81565745..81565746hg18UCSC Ensembl
Innerchr8:81565826..81565665hg18UCSC Ensembl
Outerchr8:81565664..81565827hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755413, essv7747540, essv7759679, essv7754786, essv7743960, essv7743206, essv7750201, essv7751103, essv7760452, essv7757563, essv7755001, essv7761912, essv7751623, essv7744380, essv7740951, essv7762274, essv7753530, essv7758707, essv7762442, essv7742961, essv7740314, essv7746366, essv7743040, essv7748441
SamplesNA18861, NA10851, NA18489, NA12891, NA18916, NA12287, NA18949, NA12044, NA19239, NA11831, NA18951, NA11919, NA11894, NA19099, NA18523, NA18858, NA19108, NA18517, NA18943, NA12749, NA19129, NA18511, NA18965, NA18577
Known GenesZBTB10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305015
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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