A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717349



Internal ID10300985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74710791..74711436hg38UCSC Ensembl
Outerchr18:72422747..72423392hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852514, essv6937078, essv6674493, essv6788631, essv6971708, essv6801123
SamplesSSM028, SSM021, SSM069, SSM031, SSM086, SSM072
Known GenesZNF407
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)esv2717349
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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