A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753281



Internal ID9814513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19885293..19885599hg38UCSC Ensembl
Outerchr19:19996102..19996408hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718299, esv2718298, esv2718296, esv2718297
Supporting Variants
SamplesSSM057
Known GenesZNF253
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)essv6753281
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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