A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925423



Internal ID9687212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54682816..54683174hg38UCSC Ensembl
Outerchr19:55194073..55194467hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38359
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718889, esv2718872, esv2718890
Supporting Variants
SamplesSSM018
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)essv6925423
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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