A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718247



Internal ID9952538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15882144..15883007hg38UCSC Ensembl
Outerchr19:15992954..15993817hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716776, essv6858727, essv6937302, essv6763998, essv6960971, essv6758858, essv6741873, essv6756313, essv6820857, essv6738603, essv6901367, essv6868381, essv6816306, essv6766333, essv6750366, essv6863578, essv6852770, essv6747555
SamplesSSM100, SSM059, SSM087, SSM050, SSM088, SSM058, SSM021, SSM062, SSM026, SSM089, SSM086, SSM006, SSM078, SSM077, SSM055, SSM052, SSM056, SSM063
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)esv2718247
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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