A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748776



Internal ID9983060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63420754..63421089hg38UCSC Ensembl
Outerchr14:63887472..63887807hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966269, essv6673637, essv6977753, essv6857659, essv6838889, essv6706459, essv6831589, essv6862725, essv6851658, essv6720973, essv6900835, essv6702742, essv6689143, essv6698956
SamplesSSM100, SSM083, SSM027, SSM087, SSM038, SSM039, SSM088, SSM029, SSM031, SSM044, SSM086, SSM081, SSM040, SSM005
Known GenesPPP2R5E
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)esv2748776
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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