A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740429



Internal ID9974772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119470499..119470938hg38UCSC Ensembl
OuterchrX:118604462..118604901hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818822, essv6712351, essv6876132, essv6795222, essv6892665, essv6734716, essv6698267, essv6805851, essv6671923, essv6680914, essv6927302, essv6732798, essv6969968, essv6900102, essv6767950, essv6829821, essv6811715, essv6932995, essv6723788, essv6935287, essv6939568, essv6897129, essv6957924, essv6944059, essv6849994, essv6765499, essv6786984, essv6760436, essv6701639, essv6775066, essv6676488, essv6705556, essv6964586, essv6694761, essv6931031, essv6799921, essv6731393, essv6737361, essv6866232, essv6908145, essv6782772
SamplesSSM100, SSM008, SSM071, SSM027, SSM045, SSM064, SSM038, SSM039, SSM009, SSM050, SSM074, SSM042, SSM023, SSM028, SSM092, SSM021, SSM047, SSM069, SSM061, SSM026, SSM089, SSM019, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM066, SSM068, SSM040, SSM020, SSM007, SSM078, SSM037, SSM076, SSM022, SSM010, SSM099, SSM049, SSM012
Known GenesSLC25A5
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)esv2740429
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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