A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970757



Internal ID9727800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1908542..1909070hg38UCSC Ensembl
Outerchr12:2017708..2018236hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745402
Supporting Variants
SamplesSSM028
Known GenesCACNA2D4
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)essv6970757
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