A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718874



Internal ID9953166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54479060..54481666hg38UCSC Ensembl
Outerchr19:54990218..54992821hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382607
hg192604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874496, essv6746676
SamplesSSM007, SSM091
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)esv2718874
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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