A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717605



Internal ID9951896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78879646..78879819hg38UCSC Ensembl
Outerchr18:76639646..76639819hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801149, essv6905700, essv6678684, essv6710206, essv6843348, essv6784468, essv6945940, essv6901253, essv6949993
SamplesSSM100, SSM024, SSM013, SSM041, SSM023, SSM084, SSM032, SSM068, SSM072
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2717605
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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