A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747347



Internal ID9981631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45382187..46464067hg38UCSC Ensembl
Outerchr13:45956322..47038202hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381081881
hg191081881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223e201
Supporting Variantsessv6949235, essv6779602, essv6916271, essv6749791, essv6900698, essv6815588, essv6819884, essv6809499, essv6966044, essv6912762, essv6977505, essv6746959, essv6738008, essv6953392, essv6773631, essv6966045, essv6940329, essv6755690, essv6807209, essv6953391, essv6720829, essv6775843, essv6851448, essv6803611, essv6851449, essv6876786, essv6835965, essv6772218, essv6912761, essv6823783, essv6744134, essv6959524, essv6773642, essv6758324, essv6909640, essv6928051, essv6959523, essv6741211, essv6755689, essv6761081, essv6763488, essv6668300, essv6835954, essv6716946, essv6932009, essv6977504, essv6681729, essv6673392, essv6819883, essv6752674, essv6940340, essv6755691, essv6905046, essv6936309, essv6728472, essv6920365, essv6735295, essv6857446, essv6691734, essv6873796, essv6819882, essv6970983, essv6842593, essv6735296, essv6765860, essv6966043, essv6768625, essv6867350, essv6928053, essv6712077, essv6739553, essv6712066, essv6862571
SamplesSSM059, SSM036, SSM008, SSM027, SSM024, SSM075, SSM046, SSM064, SSM079, SSM065, SSM087, SSM013, SSM009, SSM073, SSM050, SSM088, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM006, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM077, SSM010, SSM091, SSM055, SSM025, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCOG3, CPB2, CPB2-AS1, FAM194B, KIAA0226L, LCP1, LINC00563, LRRC63, SIAH3, SLC25A30, SPERT, TPT1-AS1, ZC3H13
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)esv2747347
Frequency
Sample Size96
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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