A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729140



Internal ID9793022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79297761..79298973hg38UCSC Ensembl
Outerchr18:77057761..77058973hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717628, esv2717497
Supporting Variants
SamplesSSM046
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)essv6729140
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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