A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696482



Internal ID9763467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79172238..79172554hg38UCSC Ensembl
Outerchr18:76932238..76932554hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717624, 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)essv6696482
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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