A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710306



Internal ID9775976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4036098..4036462hg38UCSC Ensembl
Outerchr19:4036096..4036460hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717985, esv2717979
Supporting Variants
SamplesSSM041
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)essv6710306
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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