A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715178



Internal ID9949464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89587760..89588376hg38UCSC Ensembl
Outerchr16:89654168..89654784hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv386e201
Supporting Variantsessv6953901, essv6678445, essv6879921, essv6678446, essv6858146, essv6713549, essv6945645, essv6882780, essv6843090, essv6776289, essv6916717, essv6867911, essv6792502, essv6839262, essv6688787, essv6871184, essv6960310
SamplesSSM083, SSM087, SSM093, SSM042, SSM023, SSM084, SSM090, SSM026, SSM089, SSM035, SSM094, SSM032, SSM066, SSM016, SSM070, SSM025
Known GenesCPNE7
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)esv2715178
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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