A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675121



Internal ID9741865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44395746..44395801hg38UCSC Ensembl
Outerchr21:45815629..45815684hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723646, esv2723638, esv2723647
Supporting Variants
SamplesSSM031
Known GenesTRPM2
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)essv6675121
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