A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820565



Internal ID9873428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10462456..10462614hg38UCSC Ensembl
Outerchr18:10462453..10462611hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716787, esv2716786
Supporting Variants
SamplesSSM078
Known GenesAPCDD1
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)essv6820565
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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