A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674452



Internal ID9742467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55586085..55586209hg38UCSC Ensembl
Outerchr18:53253316..53253440hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717131, esv2717133
Supporting Variants
SamplesSSM031
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)essv6674452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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