A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796929



Internal ID9851400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78652759..78654727hg38UCSC Ensembl
Outerchr18:76412759..76414727hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381969
hg191969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717567, esv2717497
Supporting Variants
SamplesSSM071
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)essv6796929
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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