A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733239



Internal ID9967562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12774795..12776372hg38UCSC Ensembl
Outerchr10:12816794..12818371hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740772, essv6743774, essv6746572, essv6861959, essv6931466, essv6976504, essv6908511, essv6958687, essv6915842, essv6906285, essv6735798, essv6720355, essv6861958, essv6970427, essv6850641, essv6876408, essv6672602, essv6672603, essv6757991, essv6904601, essv6952879, essv6923972, essv6866712, essv6734955, essv6757992, essv6775401, essv6712714, essv6699487, essv6819273, essv6896120, essv6771744, essv6803121, essv6965219, essv6856659, essv6819272, essv6856658, essv6760714, essv6866711, essv6952880, essv6958686
SamplesSSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM086, SSM055, SSM061, SSM042, SSM078, SSM088, SSM089, SSM031, SSM025, SSM020, SSM016, SSM001, SSM012, SSM009, SSM066, SSM028, SSM029, SSM002, SSM087, SSM052, SSM044, SSM026, SSM014, SSM049, SSM018, SSM059
Known GenesCAMK1D
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)esv2733239
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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