A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685951



Internal ID9753463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55203994..55204293hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718894, esv2718896, esv2718872, esv2718893, esv2718898
Supporting Variants
SamplesSSM034
Known Genes
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)essv6685951
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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