A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784695



Internal ID9841780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53185932..53188754hg38UCSC Ensembl
Outerchr19:53689185..53692007hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382823
hg192823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718787, esv2718812, esv2718813
Supporting Variants
SamplesSSM068
Known GenesZNF665
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)essv6784695
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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