A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718607



Internal ID3269103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158659539..158659912hg38UCSC Ensembl
Outerchr1:158629329..158629702hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797572, essv6821296, essv6843979, essv6825103, essv6954932, essv6946600, essv6785665, essv6937792, essv6895935, essv6847203, essv6769638, essv6906214, essv6880513, essv6810426, essv6902639, essv6961736, essv6777042, essv6844832, essv6836290, essv6669135, essv6697068, essv6675311, essv6868802, essv6816728, essv6766638, essv6686240, essv6898703, essv6889109, essv6793415, essv6736071, essv6692889, essv6722100
SamplesSSM065, SSM022, SSM027, SSM013, SSM086, SSM099, SSM078, SSM090, SSM064, SSM031, SSM035, SSM072, SSM071, SSM032, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM100, SSM085, SSM009, SSM011, SSM037, SSM038, SSM079, SSM026, SSM014, SSM076, SSM080
Known GenesSPTA1
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)esv2718607
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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