A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717669



Internal ID9951960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79623302..79623845hg38UCSC Ensembl
Outerchr18:77383302..77383845hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733008, essv6885644, essv6776516, essv6692323, essv6713775, essv6769160, essv6916936
SamplesSSM036, SSM064, SSM042, SSM047, SSM066, SSM016, SSM095
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)esv2717669
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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