A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960730



Internal ID9716312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78936460..78936925hg38UCSC Ensembl
Outerchr18:76696460..76696925hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717609, esv2717497
Supporting Variants
SamplesSSM026
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)essv6960730
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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