A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2733162

Internal ID9967484
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12518441..12520961hg38UCSC Ensembl
Outerchr10:12560440..12562960hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705904, essv6708998, essv6923971, essv6672601, essv6735787, essv6904599, essv6900379, essv6838304, essv6884860, essv6827355, essv6861957, essv6866707, essv6931464, essv6832421, essv6948716, essv6834594, essv6803249, essv6749424, essv6752316, essv6681274, essv6894366, essv6740770, essv6702081, essv6811961, essv6734953, essv6787406, essv6842116, essv6908509, essv6724167, essv6965215, essv6698516, essv6970426, essv6862875, essv6912268, essv6765564, essv6850638, essv6958685, essv6771743, essv6896109, essv6944531, essv6709223, essv6876407, essv6727996, essv6927645, essv6712713, essv6935751, essv6731773, essv6716437, essv6906263, essv6695177, essv6856657, essv6768876, essv6845683, essv6684793, essv6688016, essv6795680, essv6952878, essv6779128, essv6936163, essv6677482, essv6775400, essv6968562, essv6815162, essv6897390, essv6691315, essv6763168, essv6743773
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM033, SSM084, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM031, SSM035, SSM025, SSM020, SSM071, SSM057, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM041, SSM077, SSM062, SSM012, SSM100, SSM056, SSM085, SSM011, SSM066, SSM028, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM023, SSM052, SSM004, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM080
Known GenesCAMK1D
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2733162
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0

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