A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718248



Internal ID9952539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15882432..15882643hg38UCSC Ensembl
Outerchr19:15993242..15993453hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858727, essv6960971, essv6901367, essv6816306, essv6863578, essv6852770
SamplesSSM100, SSM087, SSM088, SSM026, SSM086, SSM077
Known GenesCYP4F2
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)esv2718248
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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