A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741940



Internal ID10296056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120467132..120469442hg38UCSC Ensembl
Outerchr10:122226644..122228954hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382311
hg192311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965367, essv6731869, essv6760778, essv6720440, essv6672753, essv6737708, essv6856808, essv6749494, essv6924081, essv6819413, essv6803776, essv6706376, essv6915905, essv6815237, essv6935856, essv6787509, essv6791586, essv6769642, essv6931566, essv6936930, essv6850783, essv6681352, essv6728084, essv6952950, essv6743848, essv6736499, essv6845756, essv6976695, essv6958834, essv6831071, essv6709295, essv6884920, essv6668078, essv6806196, essv6695291, essv6927715, essv6755349, essv6779211, essv6752397, essv6758049, essv6970524, essv6746639, essv6842199, essv6803312, essv6709575, essv6685654, essv6763233, essv6771816, essv6765628, essv6698585, essv6876470, essv6735022, essv6944644, essv6906974, essv6866822, essv6712782, essv6768308, essv6912342, essv6873501, essv6969318, essv6896987, essv6887813, essv6716530, essv6724244, essv6940057, essv6705992, essv6775472, essv6834668, essv6740847, essv6838372
SamplesSSM059, SSM008, SSM083, SSM027, SSM045, SSM046, SSM064, SSM065, SSM087, SSM038, SSM009, SSM073, SSM050, SSM074, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesPPAPDC1A
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)esv2741940
Frequency
Sample Size96
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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