A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888620



Internal ID9936730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37338077..37338325hg38UCSC Ensembl
Outerchr18:34918040..34918288hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716966, esv2716967
Supporting Variants
SamplesSSM096
Known GenesCELF4
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)essv6888620
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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