A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718168



Internal ID3268664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:10182209..10182610hg38UCSC Ensembl
Outerchr19:10292885..10293286hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747541
SamplesSSM055
Known GenesDNMT1
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)esv2718168
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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