A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858670



Internal ID9909601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1148880..1149022hg38UCSC Ensembl
Outerchr19:1148879..1149021hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717827, esv2717828
Supporting Variants
SamplesSSM087
Known GenesSBNO2
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)essv6858670
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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