A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339644



Internal ID14839914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80490964..80491010hg38UCSC Ensembl
Innerchr8:80490953..80491019hg38UCSC Ensembl
Outerchr8:80490909..80491065hg38UCSC Ensembl
chr8:81403199..81403245hg19UCSC Ensembl
Innerchr8:81403188..81403254hg19UCSC Ensembl
Outerchr8:81403144..81403300hg19UCSC Ensembl
chr8:81565754..81565800hg18UCSC Ensembl
Innerchr8:81565809..81565743hg18UCSC Ensembl
Outerchr8:81565699..81565855hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8940677, essv8940675, essv8940674, essv8940681, essv8940671, essv8940684, essv8940687, essv8940678, essv8940676, essv8940670, essv8940667, essv8940673, essv8940679, essv8940683, essv8940665, essv8940685, essv8940666, essv8940664, essv8940672, essv8940682, essv8940686, essv8940663
SamplesNA18861, NA10851, NA18489, NA18916, NA12287, NA18949, NA12044, 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)esv3339644
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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