A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732992



Internal ID9796110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77490331..77490746hg38UCSC Ensembl
Outerchr18:75202287..75202702hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717456, esv2717388
Supporting Variants
SamplesSSM047
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)essv6732992
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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