A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743584



Internal ID9977868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131938631..131939823hg38UCSC Ensembl
Outerchr10:133752135..133753327hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681378, essv6866851, essv6924112, essv6809206, essv6965411, essv6845783, essv6876491, essv6749512, essv6758071, essv6833343, essv6760795, essv6716561, essv6856856, essv6897287, essv6831095, essv6904698, essv6937229, essv6740874, essv6842229, essv6795796, essv6787541, essv6884938, essv6752413, essv6870565, essv6944673, essv6850831, essv6919935, essv6970556, essv6866852, essv6731898, essv6806208, essv6863853, essv6775505, essv6672804, essv6862119, essv6897482, essv6935890, essv6763251, essv6819445, essv6737729, essv6834685, essv6708375, essv6823409, essv6736743, essv6746660, essv6771850, essv6907163, essv6691413, essv6958888, essv6702222, essv6952981, essv6743867, essv6799975, essv6944675, essv6768330, essv6976751, essv6838400, essv6779235, essv6803329, essv6862121, essv6720477, essv6908646
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM033, SSM084, SSM061, SSM099, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM071, SSM057, SSM001, SSM039, SSM067, SSM083, SSM050, SSM062, SSM012, SSM056, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM087, SSM023, SSM079, SSM052, SSM044, SSM074, SSM075, SSM026, SSM014, SSM018, SSM059, SSM081
Known GenesPPP2R2D
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)esv2743584
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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