A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776463



Internal ID10182297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47396202..47396431hg38UCSC Ensembl
Outerchr18:44922573..44922802hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717045, esv2717044, esv2717043
Supporting Variants
SamplesSSM066
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)essv6776463
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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