A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618086



Internal ID7004969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94712853..94716165hg38UCSC Ensembl
Innerchr8:94713353..94715665hg38UCSC Ensembl
Outerchr8:94711853..94717165hg38UCSC Ensembl
chr8:95725081..95728393hg19UCSC Ensembl
Innerchr8:95725581..95727893hg19UCSC Ensembl
Outerchr8:95724081..95729393hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383313
hg193313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13260839, essv13260846, essv13260836, essv13260843, essv13260847, essv13260860, essv13260853, essv13260855, essv13260838, essv13260835, essv13260842, essv13260833, essv13260854, essv13260850, essv13260840, essv13260852, essv13260858, essv13260857, essv13260834, essv13260849, essv13260859, essv13260848, essv13260856, essv13260861, essv13260851, essv13260832, essv13260837, essv13260844, essv13260841, essv13260862, essv13260845
SamplesHG00235, NA11933, NA20359, NA12812, HG01488, HG01354, NA12287, HG00355, NA19922, NA20759, HG00379, HG00262, NA12889, HG01525, HG00266, HG00360, HG01162, NA12234, HG01363, NA19440, NA11881, HG00265, HG00742, NA12046, NA12347, HG01606, HG01770, HG01917, NA20758, HG01756, NA07000
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618086
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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