A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946194



Internal ID9706894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54644670..54644907hg38UCSC Ensembl
Outerchr19:55156121..55156358hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718880, esv2718872, esv2718879, esv2718881
Supporting Variants
SamplesSSM023
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)essv6946194
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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