A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749146



Internal ID9983430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101884957..101885785hg38UCSC Ensembl
Outerchr14:102351294..102352122hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966323, essv6721005, essv6959833, essv6709764, essv6673700, essv6945309, essv6842762, essv6741042, essv6808542, essv6761191, essv6706491, essv6765953
SamplesSSM027, SSM009, SSM041, SSM023, SSM084, SSM061, SSM026, SSM031, SSM044, SSM001, SSM040, SSM063
Known GenesPPP2R5C
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)esv2749146
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer