A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718252



Internal ID9952543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15887137..15887588hg38UCSC Ensembl
Outerchr19:15997947..15998398hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828706, essv6905813, essv6810122, essv6941412, essv6666408, essv6745887, essv6682528, essv6913655, essv6937303, essv6738604, essv6689046, essv6868382, essv6950166, essv6797097, essv6871468, essv6895552, essv6892079, essv6843512, essv6852771, essv6917101, essv6901368, essv6960972
SamplesSSM100, SSM071, SSM024, SSM075, SSM097, SSM013, SSM050, SSM084, SSM090, SSM021, SSM029, SSM026, SSM089, SSM035, SSM086, SSM033, SSM007, SSM015, SSM016, SSM080, SSM022, SSM098
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)esv2718252
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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