A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719079



Internal ID9953371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499413..57499622hg38UCSC Ensembl
Outerchr19:58010781..58010990hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678938, essv6858867, essv6703615, essv6863705, essv6674901, essv6967587, essv6721766, essv6888838
SamplesSSM027, SSM088, SSM031, SSM032, SSM039, SSM087, SSM096, SSM044
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)esv2719079
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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