A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717032



Internal ID10300668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46096737..46097712hg38UCSC Ensembl
Outerchr18:43676703..43677678hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696426
SamplesSSM037
Known GenesATP5A1
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)esv2717032
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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