A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717633



Internal ID9951924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79341099..79341333hg38UCSC Ensembl
Outerchr18:77101099..77101333hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891969, essv6824483, essv6967200, essv6921130, essv6678689
SamplesSSM027, SSM079, SSM097, SSM017, SSM032
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)esv2717633
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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