A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740069



Internal ID5050801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32470368..32470604hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6808797, essv6834234, essv6830643, essv6952425, essv6826912, essv6760399, essv6884587, essv6708849, essv6677046, essv6786944, essv6799409, essv6687670, essv6712329, essv6684428, essv6690923, essv6671870, essv6975686, essv6811692, essv6782731, essv6964544, essv6957849, essv6822897, essv6719925, essv6878967, essv6855956, essv6866199, essv6701609, essv6849915, essv6818785
SamplesSSM027, SSM082, SSM086, SSM036, SSM061, SSM042, SSM078, SSM089, SSM031, SSM035, SSM025, SSM072, SSM032, SSM039, SSM041, SSM093, SSM029, SSM095, SSM069, SSM034, SSM087, SSM079, SSM068, SSM044, SSM075, SSM026, SSM076, SSM081, SSM080
Known GenesDMD
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740069
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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