A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735137



Internal ID5045869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128139494..128639718hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6919211, essv6743404, essv6705350, essv6814639, essv6845230, essv6712170, essv6771150, essv6969765, essv6939377, essv6822769, essv6676916, essv6818642, essv6964286, essv6715849, essv6907943, essv6866017, essv6805729, essv6904037, essv6911665, essv6778551, essv6762841, essv6943827, essv6952260, essv6687552, essv6694574, essv6927120, essv6930819, essv6897014, essv6786770, essv6849688, essv6834104, essv6701464, essv6795021, essv6684307, essv6811588, essv6911666, essv6957594, essv6893855, essv6698137, essv6671653, essv6975408, essv6830501, essv6712169, essv6690781, essv6861301, essv6881685, essv6897013, essv6841569, essv6808693, essv6771151, essv6705351, essv6939376, essv6795022, essv6828431, essv6826759, essv6701463, essv6746183, essv6964287, essv6890710, essv6975407, essv6837774, essv6855749, essv6731212, essv6899981, essv6837773, essv6814638, essv6911664, essv6708726, essv6841570, essv6890721, essv6731220, essv6802828, essv6690782, essv6719778, essv6799230, essv6763842, essv6763853, essv6671652, essv6855750, essv6915361, essv6923403, essv6923404, essv6952263, essv6915360, essv6743402, essv6858176, essv6948159, essv6782546, essv6875996, essv6701466, essv6743403, essv6845232, essv6822768, essv6935097, essv6948160
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM032, SSM039, SSM024, SSM067, SSM094, SSM083, SSM041, SSM077, SSM062, SSM012, SSM100, SSM085, SSM017, SSM011, SSM028, SSM029, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM019, SSM023, SSM079, SSM068, SSM044, SSM074, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM081, SSM080
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLJ45340, FLNC, IRF5, KCP, LOC100130705, METTL2B, OPN1SW, TNPO3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2735137
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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