A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739988



Internal ID10323624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16409426..16410103hg38UCSC Ensembl
OuterchrX:16427549..16428226hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802928, essv6782726, essv6694728, essv6767916, essv6754921, essv6808794, essv6778720, essv6818777, essv6923548, essv6935248, essv6805824, essv6884581, essv6834228, essv6826906, essv6957832, essv6881782, essv6687665, essv6791035, essv6822892, essv6903619, essv6866190, essv6845369, essv6765303, essv6746279, essv6712326, essv6927261, essv6684425, essv6897112, essv6904186, essv6900080, essv6814761, essv6849900, essv6890635, essv6743483, essv6680867, essv6673154, essv6690915, essv6732299, essv6775024, essv6719917, essv6969919, essv6811686, essv6911810, essv6944005, essv6870166, essv6677041, essv6873149, essv6887404, essv6799443, essv6762922, essv6667819, essv6830637, essv6948320, essv6716010, essv6878962, essv6876095, essv6731348, essv6749104, essv6837917, essv6964526, essv6771307, essv6701603, essv6698233, essv6892121, essv6855938, essv6965173, essv6915499, essv6829409, essv6841724, essv6760393, essv6919383, essv6795175, essv6939520, essv6908089, essv6859376, essv6727608, essv6740386, essv6671859, essv6737325, essv6705506, essv6734680, essv6932673, essv6706654, essv6799407, essv6786939, essv6751964, essv6682221, essv6765141, essv6952412, essv6975669, essv6930988, essv6861452, essv6723735, essv6708840
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
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)esv2739988
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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