A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719078



Internal ID9953370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499379..57499816hg38UCSC Ensembl
Outerchr19:58010747..58011184hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689105, essv6863705, essv6858867, essv6967587, essv6721766, essv6820962, essv6678938, essv6835948, essv6703616, essv6895641, essv6674901, essv6888838, essv6703615
SamplesSSM027, SSM087, SSM039, SSM088, SSM096, SSM035, SSM032, SSM031, SSM044, SSM082, SSM078, SSM098
Known Genes
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)esv2719078
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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