A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749657



Internal ID10330627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48257961..48258411hg38UCSC Ensembl
Outerchr15:48550158..48550608hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699028, essv6842858, essv6768806, essv6869320, essv6709829, essv6920636, essv6862880, essv6828111, essv6772479, essv6673816, essv6835254, essv6851844, essv6779859, essv6783974, essv6837698, essv6924744, essv6755877, essv6717197, essv6882635, essv6974607, essv6665291, essv6688605, essv6788173, essv6945406, essv6942339, essv6724877, essv6689988, essv6953664, essv6691940, essv6873978, essv6897938, essv6895019, essv6891617, essv6846263, essv6806682, essv6916495, essv6747143, essv6809698, essv6800633, essv6876982, essv6820179, essv6940753, essv6879771, essv6695981, essv6761267, essv6932289, essv6706564, essv6713499, essv6741420, essv6746376, essv6728690, essv6721076, essv6815799, essv6744305, essv6885341, essv6824025, essv6905287, essv6758500, essv6713346, essv6871035, essv6909268
SamplesSSM059, SSM036, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM038, SSM097, SSM013, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM092, SSM084, SSM090, SSM018, SSM069, SSM061, SSM029, SSM017, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM004, SSM099, SSM043, SSM098
Known GenesSLC12A1
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)esv2749657
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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