A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717132



Internal ID9951421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55585974..55586338hg38UCSC Ensembl
Outerchr18:53253205..53253569hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv455e201
Supporting Variantsessv6858437, essv6703312
SamplesSSM087, SSM039
Known GenesTCF4
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)esv2717132
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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