A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666059



Internal ID10079602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49493518..49493808hg38UCSC Ensembl
Outerchr18:47019888..47020178hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717085, esv2717086
Supporting Variants
SamplesSSM029
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)essv6666059
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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