A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847900



Internal ID9899905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42819279..42819627hg38UCSC Ensembl
Outerchr3:42860771..42861119hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725201
Supporting Variants
SamplesSSM086
Known GenesACKR2
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)essv6847900
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