A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947140



Internal ID9989449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:815363..815727hg38UCSC Ensembl
Outerchr19:815363..815727hg19UCSC 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 Variantsesv2743119
Supporting Variants
SamplesSSM003
Known GenesLPPR3
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)essv6947140
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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