A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740218



Internal ID10323854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71903355..71903683hg38UCSC Ensembl
OuterchrX:71123205..71123533hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802948, essv6855985, essv6897118, essv6671897, essv6915517, essv6814773, essv6687689, essv6834246, essv6694745, essv6944032, essv6754947, essv6884595, essv6743501, essv6767934, essv6805836, essv6881799, essv6935265, essv6887414, essv6782746, essv6964562, essv6706865, essv6786958, essv6771328, essv6837928, essv6904213, essv6778735, essv6866217, essv6818804, essv6682377, essv6751990, essv6701623, essv6957878, essv6826926, essv6799711, essv6849945, essv6870177, essv6746294, essv6859586, essv6975716, essv6829642, essv6749123, essv6667842, essv6830656, essv6845386, essv6861473, essv6732599, essv6911846, essv6775048, essv6908120, essv6762937, essv6727618, essv6948335, essv6878973, essv6690939, essv6740413, essv6737340, essv6734695, essv6952439, essv6903774, essv6939547, essv6893997, essv6795193, essv6811699, essv6712338, essv6890646, essv6799423
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM090, SSM021, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM035, SSM094, SSM031, SSM067, SSM014, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM055, SSM095, SSM025, SSM099, SSM052, SSM098, SSM049, SSM056, SSM030
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)esv2740218
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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