A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666367



Internal ID9733194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4005406..4159344hg38UCSC Ensembl
Outerchr19:4005404..4159341hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38153939
hg19153938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717979
Supporting Variants
SamplesSSM029
Known GenesCREB3L3, MAP2K2, PIAS4, ZBTB7A
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)essv6666367
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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