A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707081



Internal ID9773168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54109655..54110012hg38UCSC Ensembl
Outerchr19:54612962..54613395hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38358
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718853, esv2718812
Supporting Variants
SamplesSSM040
Known GenesTFPT
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)essv6707081
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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