A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717138



Internal ID10300774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:56600317..56600462hg38UCSC Ensembl
Outerchr18:54267548..54267693hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945889
SamplesSSM023
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)esv2717138
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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