A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720019



Internal ID10303655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46798686..46799463hg38UCSC Ensembl
Outerchr2:47025825..47026602hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917748, essv6699947, essv6707541, essv6813435, essv6714553, essv6679478, essv6902815, essv6697196, essv6937993, essv6929411, essv6793618, essv6962033, essv6877872, essv6787098, essv6942155, essv6968286, essv6906400, essv6955275, essv6919429, essv6952751, essv6922056, essv6821479, essv6972897, essv6675502, essv6925959, essv6739084, essv6693120, essv6892596, essv6773736, essv6729918, essv6874950, essv6840280, essv6933638, essv6914235, essv6781207, essv6879442, essv6853690, essv6825311, essv6785328, essv6801844, essv6769845, essv6766767, essv6789495, essv6726144, essv6751298, essv6910372, essv6844133, essv6710883
SamplesSSM008, SSM071, SSM027, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM042, SSM041, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM014, SSM033, SSM066, SSM085, SSM068, SSM020, SSM015, SSM016, SSM080, SSM037, SSM077, SSM022, SSM070, SSM004, SSM043, SSM052, SSM098, SSM012
Known Genes
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)esv2720019
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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