A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736703



Internal ID9971035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18793927..18794905hg38UCSC Ensembl
Outerchr8:18651437..18652415hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734775, essv6834335, essv6701729, essv6691028, essv6923643, essv6876187, essv6707364, essv6958082, essv6894070, essv6737417, essv6970057, essv6919500, essv6904314, essv6805895, essv6680984, essv6893221, essv6873217, essv6740499, essv6822979, essv6808872, essv6749200, essv6975907, essv6743568, essv6795319, essv6672048, essv6879036, essv6731472, essv6683020, essv6838002, essv6830726, essv6931122, essv6966151, essv6944156, essv6760495, essv6897175, essv6900149, essv6755022, essv6771423, essv6687774, essv6698321, essv6827022, essv6775122, essv6800599, essv6778811, essv6845449, essv6811756, essv6881858, essv6712420, essv6667894, essv6787069, essv6765390, essv6830353, essv6911938, essv6964694, essv6915589, essv6814870, essv6939665, essv6890715, essv6887478, essv6762981, essv6884657, essv6716136, essv6677151, essv6935383
SamplesSSM010, SSM065, SSM022, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM036, SSM091, SSM033, SSM061, SSM099, SSM042, SSM043, SSM031, SSM035, SSM020, SSM071, SSM016, SSM032, SSM039, SSM067, SSM094, SSM083, SSM050, SSM097, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM095, SSM030, SSM047, SSM069, SSM021, SSM063, SSM038, SSM096, SSM023, SSM079, SSM052, SSM074, SSM004, SSM075, SSM015, SSM026, SSM049, SSM098, SSM018, SSM076, SSM058, SSM081, SSM080
Known GenesPSD3
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)esv2736703
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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