A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740069



Internal ID3290565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32452251..32452487hg38UCSC Ensembl
OuterchrX:32470368..32470604hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
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)esv2740069
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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