A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721190



Internal ID10304826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178432187..178436139hg38UCSC Ensembl
Outerchr2:179296914..179300866hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922188, essv6675618, essv6953673, essv6889379, essv6844237, essv6962241, essv6797913, essv6829389, essv6764449, essv6817092, essv6826820, essv6832983, essv6807713, essv6825442, essv6710993, essv6942287, essv6859702, essv6883562, essv6886290, essv6813529, essv6804744, essv6672354, essv6707645, essv6810638, essv6917876, essv6762097, essv6683192, essv6898948
SamplesSSM100, SSM027, SSM075, SSM097, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM018, SSM096, SSM062, SSM017, SSM032, SSM085, SSM081, SSM072, SSM082, SSM078, SSM005, SSM080, SSM077, SSM076, SSM095, SSM034, SSM004, SSM063
Known GenesMIR548N, PRKRA
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)esv2721190
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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