A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715119



Internal ID9949405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89159941..89160730hg38UCSC Ensembl
Outerchr16:89226349..89227138hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744423, essv6772690, essv6949732, essv6863106, essv6843085, essv6780053, essv6858137, essv6732759, essv6913214, essv6912196, essv6717408, essv6743019, essv6810833, essv6682157, essv6815975, essv6824239, essv6777432, essv6920846, essv6936834, essv6761386, essv6891779, essv6738299, essv6792495, essv6750078, essv6901871, essv6721297, essv6706750, essv6976250, essv6768964, essv6703085, essv6665669, essv6877132
SamplesSSM065, SSM007, SSM092, SSM053, SSM033, SSM084, SSM061, SSM040, SSM043, SSM088, SSM064, SSM039, SSM024, SSM067, SSM050, SSM097, SSM077, SSM012, SSM056, SSM017, SSM009, SSM029, SSM047, SSM021, SSM002, SSM087, SSM079, SSM044, SSM004, SSM015, SSM008, SSM070
Known GenesLINC00304
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)esv2715119
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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