A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950922



Internal ID10060242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112346211..112346569hg38UCSC Ensembl
Outerchr2:113103788..113104146hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720530
Supporting Variants
SamplesSSM025
Known Genes
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)essv6950922
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