A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883458



Internal ID10278418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28130946..28131368hg38UCSC Ensembl
Outerchr2:28353813..28354235hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719837
Supporting Variants
SamplesSSM095
Known GenesBRE
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)essv6883458
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