A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874831



Internal ID9663751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54219889..54239580hg38UCSC Ensembl
Outerchr19:54723758..54743456hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819692
hg1919699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718812, esv2718859
Supporting Variants
SamplesSSM011
Known GenesLILRA6, LILRB3
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)essv6874831
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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