A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733695



Internal ID9968020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18214105..18214685hg38UCSC Ensembl
Outerchr10:18503034..18503614hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862931, essv6752318, essv6787413, essv6884865, essv6944536, essv6834597, essv6685087, essv6705907, essv6768246, essv6702087, essv6923983, essv6691319, essv6779135, essv6806132, essv6906318, essv6935756, essv6695180, essv6838312, essv6842123, essv6819279, essv6845690, essv6684799, essv6908516, essv6887748, essv6876414, essv6740777, essv6861964, essv6731778, essv6882070, essv6970431, essv6735832, essv6803155, essv6771749, essv6749428, essv6672609, essv6720361, essv6791503, essv6965224, essv6677490, essv6948721, essv6856666, essv6919808, essv6879252, essv6870481, essv6681278, essv6811968, essv6775405, essv6873437, essv6894369, essv6815168, essv6724173, essv6799869, essv6936196, essv6896154, essv6912271, essv6803251, essv6728002, essv6931469
SamplesSSM036, SSM083, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM039, SSM009, SSM073, SSM093, SSM074, SSM088, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM096, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM033, SSM066, SSM085, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM005, SSM037, SSM077, SSM076, SSM091, SSM070, SSM095, SSM034, SSM052, SSM098, SSM056, SSM012
Known GenesCACNB2
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)esv2733695
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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