A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825585



Internal ID9879823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47854776..47854883hg38UCSC Ensembl
Outerchr3:47896266..47896373hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725244, esv2725245
Supporting Variants
SamplesSSM080
Known GenesMAP4
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)essv6825585
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