A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673148



Internal ID9743640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27495215..27502218hg38UCSC Ensembl
Outerchr12:27648148..27655151hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387004
hg197004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745668, esv2745664
Supporting Variants
SamplesSSM031
Known GenesSMCO2
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)essv6673148
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