A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673733



Internal ID9939838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134181997..134183658hg38UCSC Ensembl
chr8:135194240..135195901hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381662
hg191662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6111832, essv6589628, essv6193341, essv6077201, essv6340025, essv6355443, essv5959167, essv5475435, essv5690245, essv5908420, essv6535163, essv6372363, essv6151576, essv6403494, essv6347451, essv5611700, essv5907129, essv6104981, essv6123127, essv6554025, essv6400966, essv5913304, essv5478035, essv5844113, essv6300283, essv5565524, essv6320969, essv5416883, essv6109777, essv6209570, essv5829155, essv6055988
SamplesNA18502, NA12717, NA18861, NA12414, NA18507, NA12751, NA18504, NA18870, NA18489, NA12891, NA18916, NA19238, NA19239, NA12878, NA18907, NA19114, NA18499, NA11894, NA18856, NA12892, NA19099, NA19257, NA18523, NA19108, NA18517, NA19240, NA18501, NA12749, NA18505, NA19129, NA18511, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673733
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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