A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696485



Internal ID9763464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79374314..79374481hg38UCSC Ensembl
Outerchr18:77134314..77134481hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717641, esv2717497
Supporting Variants
SamplesSSM037
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)essv6696485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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