A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748791



Internal ID9983075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65139619..65141356hg38UCSC Ensembl
Outerchr14:65606337..65608074hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752770, essv6941307, essv6688505, essv6706460, essv6959761, essv6761166, essv6681855, essv6876884, essv6803691, essv6831592, essv6835144, essv6945268, essv6868320, essv6724763, essv6838890, essv6953531, essv6768723, essv6862727, essv6971138, essv6668357
SamplesSSM083, SSM045, SSM011, SSM064, SSM073, SSM088, SSM057, SSM023, SSM028, SSM092, SSM061, SSM026, SSM035, SSM003, SSM033, SSM081, SSM040, SSM082, SSM025, SSM030
Known Genes
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)esv2748791
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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