A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746576



Internal ID9652852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53366586..53469691hg38UCSC Ensembl
Outerchr19:53869839..53972945hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38103106
hg19103107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718812, esv2718817
Supporting Variants
SamplesSSM007
Known GenesTPM3P9, ZNF525, ZNF761, ZNF765, 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)essv6746576
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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