A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717826



Internal ID9952117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1138513..1139045hg38UCSC Ensembl
Outerchr19:1138512..1139044hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813732
SamplesSSM009
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)esv2717826
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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