A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824718



Internal ID9879042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54975260..54975663hg38UCSC Ensembl
Outerchr19:55486628..55487031hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718934
Supporting Variants
SamplesSSM079
Known GenesNLRP2
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)essv6824718
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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