A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729372



Internal ID9793231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55078389..55078909hg38UCSC Ensembl
Outerchr19:55589757..55590277hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718945
Supporting Variants
SamplesSSM046
Known GenesEPS8L1
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)essv6729372
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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