A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717533



Internal ID9951824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78479311..78479865hg38UCSC Ensembl
Outerchr18:76239311..76239865hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828547, essv6725338, essv6832117, essv6703359, essv6674523, essv6941265, essv6713762
SamplesSSM045, SSM039, SSM042, SSM031, SSM081, SSM080, SSM022
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)esv2717533
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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