A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717182



Internal ID10300818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:61616608..61616870hg38UCSC Ensembl
Outerchr18:59283841..59284103hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820623, essv6967126, essv6685742, essv6835657, essv6666072, essv6909625
SamplesSSM027, SSM029, SSM014, SSM082, SSM078, SSM034
Known Genes
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)esv2717182
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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