A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738996



Internal ID9973337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120494701..120497450hg38UCSC Ensembl
Outerchr9:123256979..123259728hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919713, essv6760665, essv6668003, essv6900328, essv6879212, essv6890913, essv6724086, essv6681191, essv6749363, essv6743720, essv6763121, essv6876348, essv6823220, essv6809069, essv6716339, essv6752251, essv6842026, essv6684676, essv6935540, essv6799781, essv6834522, essv6927558, essv6861867, essv6923878, essv6811918, essv6698477, essv6737588, essv6904517, essv6887683, essv6755211, essv6677405, essv6870435, essv6709158, essv6684737, essv6819184, essv6735288, essv6765523, essv6687956, essv6783087, essv6806070, essv6771640, essv6862431, essv6708520, essv6720291, essv6740706, essv6746523, essv6787317, essv6897341, essv6905741, essv6705828, essv6908447, essv6827279, essv6935643, essv6948620, essv6895365, essv6856529, essv6830916, essv6970319, essv6731691
SamplesSSM065, SSM007, SSM092, SSM013, SSM053, SSM082, SSM006, SSM055, SSM033, SSM084, SSM061, SSM099, SSM040, SSM078, SSM043, SSM088, SSM090, SSM035, SSM072, SSM057, SSM032, SSM024, SSM045, SSM050, SSM097, SSM041, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM017, SSM011, SSM028, SSM003, SSM030, SSM047, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM019, SSM096, SSM079, SSM052, SSM068, SSM044, SSM074, SSM075, SSM014, SSM018, SSM076, SSM058, SSM081, SSM080
Known GenesCDK5RAP2
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)esv2738996
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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