A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718269



Internal ID10301905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16875193..16875360hg38UCSC Ensembl
Outerchr19:16986004..16986171hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784631
SamplesSSM068
Known GenesSIN3B
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)esv2718269
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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