A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836609



Internal ID10236617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281932..201284712hg38UCSC Ensembl
Outerchr2:202146655..202149435hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382781
hg192781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721364
Supporting Variants
SamplesSSM083
Known GenesCASP8
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)essv6836609
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