A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740012



Internal ID10323648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:24274462..24274916hg38UCSC Ensembl
OuterchrX:24292579..24293033hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904192, essv6932695, essv6845370, essv6923549, essv6881783, essv6957839, essv6690917, essv6682232, essv6778723, essv6791037, essv6866193, essv6808796, essv6708844, essv6930991, essv6782728, essv6719921, essv6964533, essv6786940, essv6975679, essv6884583, essv6805826, essv6944009, essv6878964, essv6795177, essv6822894, essv6754924, essv6698235, essv6731350, essv6855947, essv6802930, essv6952417, essv6732343, essv6771310, essv6939526, essv6701606, essv6687667, essv6684426, essv6969923, essv6716016, essv6743484, essv6908093, essv6677045, essv6965228, essv6897113, essv6893986, essv6814763, essv6859409, essv6927265
SamplesSSM036, SSM071, SSM027, SSM075, SSM011, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM073, SSM093, SSM074, SSM041, SSM023, SSM058, SSM028, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM067, SSM044, SSM014, SSM085, SSM068, SSM020, SSM007, SSM053, SSM005, SSM077, SSM022, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098
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)esv2740012
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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