A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928832



Internal ID9691346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53432812..53469688hg38UCSC Ensembl
Outerchr19:53936065..53972942hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3836877
hg1936878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718823, esv2718822, esv2718812, esv2718817
Supporting Variants
SamplesSSM019
Known GenesTPM3P9, ZNF761, ZNF813
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)essv6928832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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