A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954366



Internal ID10058728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:31242531..31243048hg38UCSC Ensembl
Outerchr19:31733437..31733954hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718452, esv2718453
Supporting Variants
SamplesSSM025
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)essv6954366
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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