A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748801



Internal ID9983085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66343905..66344238hg38UCSC Ensembl
Outerchr14:66810623..66810956hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831594, essv6862729, essv6905171, essv6867520, essv6959765, essv6857663, essv6945271, essv6894912, essv6800530, essv6882543, essv6891519, essv6768726, essv6823925, essv6909150, essv6977758, essv6688506, essv6953534, essv6868342, essv6673640, essv6828006, essv6685345, essv6724764, essv6772351, essv6966272
SamplesSSM027, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM088, SSM023, SSM029, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM081, SSM072, SSM080, SSM025, SSM034, SSM098
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)esv2748801
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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