A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2738996

Internal ID9973337
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120494701..120497450hg38UCSC Ensembl
Outerchr9:123256979..123259728hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2738996
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0

Hosted by The Centre for Applied Genomics
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