A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723501



Internal ID9957801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41805786..41806405hg38UCSC Ensembl
Outerchr21:43225946..43226565hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668677, essv6821087, essv6863852, essv6868649, essv6874641, essv6689194, essv6853106, essv6789033, essv6742082, essv6692671, essv6836078, essv6682760, essv6675104, essv6832492, essv6729526, essv6707204, essv6876086, essv6725747, essv6813108, essv6710512, essv6883201, essv6961371, essv6679063
SamplesSSM036, SSM045, SSM046, SSM011, SSM088, SSM041, SSM069, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM086, SSM033, SSM081, SSM040, SSM082, SSM078, SSM076, SSM091, SSM004, SSM052
Known GenesPRDM15
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)esv2723501
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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