A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824619



Internal ID9878953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4036117..4036450hg38UCSC Ensembl
Outerchr19:4036115..4036448hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717985, esv2717979
Supporting Variants
SamplesSSM079
Known GenesPIAS4
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)essv6824619
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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