A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721257



Internal ID9955553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188980386..188980596hg38UCSC Ensembl
Outerchr2:189845112..189845322hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807725, essv6853899, essv6962254
SamplesSSM027, SSM087, SSM075
Known GenesCOL3A1
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)esv2721257
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer