A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740378



Internal ID10324014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:109212395..109213354hg38UCSC Ensembl
OuterchrX:108455624..108456583hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841748, essv6687709, essv6680908, essv6878986, essv6716057, essv6957915, essv6931025, essv6771347, essv6900096, essv6765443, essv6894005, essv6757750, essv6684445, essv6818815, essv6856018, essv6952465, essv6814789, essv6975748, essv6701636, essv6939560, essv6897126, essv6927297, essv6822916, essv6786978, essv6705549, essv6676153, essv6698261, essv6802962, essv6904233
SamplesSSM100, SSM059, SSM008, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM073, SSM093, SSM084, SSM069, SSM029, SSM026, SSM019, SSM035, SSM001, SSM033, SSM040, SSM020, SSM078, SSM077, SSM022, SSM025, SSM034, 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)esv2740378
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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