A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772881



Internal ID10178360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:34166763..34167102hg38UCSC Ensembl
Outerchr18:31746727..31747066hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716952
Supporting Variants
SamplesSSM065
Known GenesNOL4
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)essv6772881
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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