A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717641



Internal ID9951932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79374303..79374489hg38UCSC Ensembl
Outerchr18:77134303..77134489hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801156, essv6788658, essv6824484, essv6792763, essv6696485, essv6967203, essv6945948, essv6733007, essv6666158, essv6954174, essv6725353, essv6816178, essv6784473, essv6729143
SamplesSSM027, SSM045, SSM046, SSM079, SSM023, SSM047, SSM069, SSM029, SSM068, SSM072, SSM037, SSM077, SSM070, SSM025
Known GenesATP9B
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)esv2717641
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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