A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723716



Internal ID9958016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45145532..45146380hg38UCSC Ensembl
Outerchr21:46565447..46566295hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807332, essv6747887, essv6933231, essv6901555, essv6946420, essv6733438, essv6761823, essv6972223, essv6950464, essv6692686, essv6668822, essv6949707, essv6747737, essv6750558, essv6967832, essv6756509, essv6789057, essv6784087, essv6725770, essv6675134, essv6798486, essv6917355, essv6913933, essv6816309, essv6753458, essv6843388, essv6801567, essv6877633, essv6696949
SamplesSSM100, SSM036, SSM008, SSM027, SSM024, SSM045, SSM009, SSM074, SSM057, SSM023, SSM058, SSM028, SSM092, SSM047, SSM069, SSM061, SSM003, SSM031, SSM001, SSM072, SSM020, SSM007, SSM015, SSM016, SSM037, SSM010, SSM055, SSM004, SSM056
Known GenesADARB1
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)esv2723716
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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