A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737711



Internal ID10321347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139462981..139463402hg38UCSC Ensembl
Outerchr8:140475224..140475645hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948498, essv6894158, essv6768078, essv6752157, essv6740591, essv6698389, essv6927439, essv6900226, essv6767098, essv6687821, essv6723945, essv6934407, essv6884728, essv6691125, essv6970161, essv6873294, essv6861715, essv6897244, essv6845526, essv6775205, essv6876253, essv6958271, essv6720150, essv6915657, essv6856322, essv6803092, essv6861309, essv6734835, essv6890813, essv6677267, essv6795438, essv6935492, essv6905063, essv6808958, essv6964863, essv6838092, essv6866436, essv6904400, essv6731559, essv6727793, essv6705713, essv6763039, essv6760580, essv6976107, essv6712509, essv6782949, essv6801465, essv6952646, essv6746435, essv6923734, essv6908319, essv6894120, essv6823081, essv6683787, essv6667940, essv6919587, essv6672227, essv6931227, essv6799619, essv6755106, essv6778898, essv6709038, essv6827134, essv6791263
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM021, SSM047, SSM018, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM066, SSM085, SSM068, SSM040, SSM072, SSM020, SSM016, SSM005, SSM080, SSM091, SSM055, SSM070, SSM095, SSM025, SSM099, SSM052, SSM098, SSM049, SSM030, SSM012
Known Genes
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)esv2737711
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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