A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909621



Internal ID9671193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55586118..55586233hg38UCSC Ensembl
Outerchr18:53253349..53253464hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717131, esv2717133
Supporting Variants
SamplesSSM014
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)essv6909621
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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