A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718589



Internal ID9952881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41914594..41914857hg38UCSC Ensembl
Outerchr19:42418746..42419009hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868433, essv6961030, essv6852823, essv6820912
SamplesSSM026, SSM089, SSM086, SSM078
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)esv2718589
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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