A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748865



Internal ID10329835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73487023..73487346hg38UCSC Ensembl
Outerchr14:73953728..73954051hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835150, essv6702751, essv6717090, essv6831599, essv6842730, essv6862738, essv6977769, essv6728600, essv6681861, essv6966281, essv6698962, essv6809612, essv6732429
SamplesSSM027, SSM075, SSM046, SSM038, SSM039, SSM088, SSM084, SSM047, SSM029, SSM033, SSM081, SSM082, SSM043
Known GenesHEATR4
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)esv2748865
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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