A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949931



Internal ID9707684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32130887..32131247hg38UCSC Ensembl
Outerchr18:29710850..29711210hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716943, esv2716942
Supporting Variants
SamplesSSM024
Known GenesRNF138
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)essv6949931
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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