A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672173



Internal ID9591592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63048527..63053334hg38UCSC Ensembl
chr8:63961086..63965893hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384808
hg194808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5588911, essv5594821, essv6012663, essv6048714, essv6039031, essv6000556, essv5760258, essv5501794, essv6026450, essv5971402, essv5735921, essv6566968, essv5781592, essv5451932, essv5604660, essv5682018, essv5823555, essv5396826
SamplesNA19701, NA19355, NA19107, NA19313, NA19138, NA20287, NA19404, NA19209, NA19445, NA19455, NA18912, NA19160, NA19625, NA19440, NA19434, NA19334, NA19102, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672173
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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