A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682550



Internal ID9748588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28550494..28550726hg38UCSC Ensembl
Outerchr19:29041401..29041633hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718397, esv2718391
Supporting Variants
SamplesSSM033
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)essv6682550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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