A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717152



Internal ID9951441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57787273..57787651hg38UCSC Ensembl
Outerchr18:55454505..55454883hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832087, essv6685739
SamplesSSM034, SSM081
Known GenesATP8B1
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)esv2717152
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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