A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738752



Internal ID9973093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:90861317..90861841hg38UCSC Ensembl
Outerchr9:93623599..93624123hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803172, essv6677373, essv6845605, essv6894257, essv6701967, essv6908416, essv6716308, essv6712608, essv6895065, essv6904493, essv6705801, essv6695055, essv6823195, essv6850472, essv6709134, essv6965035, essv6827249, essv6944400, essv6862076, essv6783053, essv6681168, essv6912135, essv6935251, essv6687925, essv6939869, essv6931331, essv6856485, essv6952749, essv6720261, essv6672417, essv6948589, essv6779006, essv6735054, essv6787285, essv6927526, essv6809036, essv6838200, essv6815067, essv6724059, essv6731660, essv6795563, essv6799751, essv6834493, essv6879183, essv6791383
SamplesSSM022, SSM007, SSM027, SSM013, SSM082, SSM086, SSM033, SSM042, SSM040, SSM043, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM041, SSM077, SSM012, SSM093, SSM085, SSM011, SSM003, SSM047, SSM073, SSM069, SSM037, SSM087, SSM019, SSM023, SSM079, SSM068, SSM044, SSM075, SSM015, SSM014, SSM098, SSM070, SSM080
Known GenesSYK
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)esv2738752
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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