A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718446



Internal ID10302082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30951988..30952433hg38UCSC Ensembl
Outerchr19:31442894..31443339hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898380, essv6928796
SamplesSSM019, SSM099
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)esv2718446
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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