A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726004



Internal ID10309640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143978274..143979033hg38UCSC Ensembl
Outerchr3:143697116..143697875hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739377, essv6825671, essv6675825, essv6714860, essv6962566, essv6730216, essv6951223, essv6833161, essv6929745, essv6754377, essv6942541, essv6693471, essv6689827, essv6777529
SamplesSSM036, SSM008, SSM027, SSM023, SSM047, SSM032, SSM067, SSM082, SSM020, SSM080, SSM037, SSM025, SSM043, SSM052
Known GenesC3orf58
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)esv2726004
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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