A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717830



Internal ID9952121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1165747..1166123hg38UCSC Ensembl
Outerchr19:1165746..1166122hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913612, essv6797061, essv6721640
SamplesSSM071, SSM044, SSM015
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)esv2717830
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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