A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723629



Internal ID10307265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44162904..44163606hg38UCSC Ensembl
Outerchr21:45582787..45583489hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846913, essv6666832, essv6836089, essv6843814, essv6941694, essv6832503, essv6933218, essv6921636, essv6718074, essv6816220, essv6797359, essv6853121, essv6949618, essv6696938, essv6703774, essv6776843, essv6710518, essv6682768, essv6769440, essv6725756, essv6801553, essv6707213, essv6699537, essv6928985, essv6909979, essv6784900, essv6756501, essv6967816, essv6733426, essv6807323, essv6675116, essv6946402, essv6972214, essv6828923, essv6902453, essv6780768, essv6718453, essv6874649, essv6783987, essv6747731, essv6954612, essv6906050, essv6729535, essv6789045, essv6804353, essv6925614, essv6793201
SamplesSSM008, SSM071, SSM027, SSM045, SSM046, SSM064, SSM038, SSM039, SSM013, SSM009, SSM073, SSM074, SSM041, SSM023, SSM058, SSM028, SSM084, SSM047, SSM018, SSM069, SSM029, SSM017, SSM019, SSM003, SSM031, SSM067, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM080, SSM037, SSM022, SSM091, SSM055, SSM070, SSM025, SSM043, 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)esv2723629
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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