A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717807



Internal ID10301443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150718960..150719278hg38UCSC Ensembl
Outerchr1:150691436..150691754hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769628, essv6892418, essv6793404, essv6864094, essv6880506, essv6954913, essv6889103, essv6847190, essv6718254, essv6785099, essv6929170, essv6836284, essv6789252, essv6669127, essv6917584, essv6961723, essv6941900, essv6844765, essv6906203, essv6682922, essv6910159, essv6933407, essv6810420, essv6868795, essv6960150, essv6859318, essv6719686, essv6675305, essv6747873, essv6714347, essv6853406, essv6817576, essv6946588, essv6777028, essv6825093, essv6816718, essv6972545
SamplesSSM083, SSM071, SSM027, SSM024, SSM011, SSM065, SSM087, SSM097, SSM088, SSM023, SSM090, SSM021, SSM069, SSM029, SSM026, SSM089, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM020, SSM007, SSM015, SSM078, SSM080, SSM076, SSM010, SSM070, SSM034, SSM043, SSM098, SSM056
Known GenesHORMAD1
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)esv2717807
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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