A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717338



Internal ID10300974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:73960904..73981281hg38UCSC Ensembl
Outerchr18:71628139..71648516hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3820378
hg1920378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779554
SamplesSSM008
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)esv2717338
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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