A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725351



Internal ID9789611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79172242..79172550hg38UCSC Ensembl
Outerchr18:76932242..76932550hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717624, esv2717497
Supporting Variants
SamplesSSM045
Known GenesATP9B
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)essv6725351
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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