A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748595



Internal ID10329565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35136421..35146053hg38UCSC Ensembl
Outerchr14:35605627..35615259hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg389633
hg199633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765922, essv6744209, essv6741312, essv6749872, essv6977718, essv6774586, essv6761151, essv6941162, essv6712698, essv6747046, essv6876872, essv6738082
SamplesSSM008, SSM050, SSM092, SSM061, SSM029, SSM003, SSM006, SSM053, SSM055, SSM052, SSM056, SSM063
Known GenesKIAA0391
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)esv2748595
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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