A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748480



Internal ID9982764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23390535..23420438hg38UCSC Ensembl
Outerchr14:23859744..23889647hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3829904
hg1929904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870906, essv6916348, essv6894888, essv6792116
SamplesSSM090, SSM016, SSM070, SSM098
Known GenesMIR208B, MYH6, MYH7
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)esv2748480
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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