A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717681



Internal ID9951972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79720244..79720364hg38UCSC Ensembl
Outerchr18:77480244..77480364hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674550, essv6852565, essv6960744, essv6858525
SamplesSSM086, SSM031, SSM087, SSM026
Known GenesCTDP1
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)esv2717681
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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