A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870906



Internal ID9920613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23390539..23420406hg38UCSC Ensembl
Outerchr14:23859748..23889615hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3829868
hg1929868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748480
Supporting Variants
SamplesSSM090
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)essv6870906
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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