A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718994



Internal ID9953286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55862090..55862278hg38UCSC Ensembl
Outerchr19:56373456..56373644hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967572, essv6913742, essv6852878, essv6773192, essv6928858
SamplesSSM027, SSM065, SSM019, SSM086, SSM015
Known GenesNLRP4
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)esv2718994
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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