A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717490



Internal ID9951781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77978572..77978823hg38UCSC Ensembl
Outerchr18:75690528..75690779hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv471e201
Supporting Variantsessv6949982, essv6885633, essv6784455, essv6858497, essv6703355, essv6696467, essv6674515, essv6753166
SamplesSSM024, SSM087, SSM039, SSM057, SSM031, SSM068, SSM037, SSM095
Known GenesLINC01029
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)esv2717490
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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