A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718432



Internal ID10302068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30117745..30118355hg38UCSC Ensembl
Outerchr19:30608652..30609262hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801319, essv6666456, essv6843540, essv6925358, essv6694142
SamplesSSM084, SSM018, SSM029, SSM072, SSM005
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)esv2718432
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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