A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703590



Internal ID9767787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53113230..53113560hg38UCSC Ensembl
Outerchr19:53616483..53616813hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718810, esv2718811, esv2718787
Supporting Variants
SamplesSSM039
Known GenesZNF415
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)essv6703590
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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