A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740183



Internal ID9974525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55212345..55212840hg38UCSC Ensembl
OuterchrX:55238778..55239273hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694742, essv6671888, essv6965361, essv6786955, essv6690936, essv6760414, essv6667840, essv6927279, essv6746291, essv6698244, essv6731366, essv6775044, essv6771327, essv6795188, essv6826923, essv6701620, essv6778731, essv6919399, essv6708862, essv6957871, essv6799419, essv6944027, essv6712336, essv6680892, essv6719935, essv6975708, essv6767930, essv6904210, essv6799676, essv6969941, essv6802944, essv6845384, essv6911839, essv6740408, essv6939544, essv6723760, essv6931004, essv6791059, essv6849937
SamplesSSM036, SSM071, SSM045, SSM064, SSM065, SSM038, SSM039, SSM013, SSM009, SSM073, SSM042, SSM041, SSM023, SSM028, SSM047, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM072, SSM020, SSM015, SSM080, SSM037, SSM022, SSM055, SSM070, SSM004, SSM052, SSM030
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)esv2740183
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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