A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2736703

Internal ID9971035
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18793927..18794905hg38UCSC Ensembl
Outerchr8:18651437..18652415hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2736703
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0

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