A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749075



Internal ID10330045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96745077..96746048hg38UCSC Ensembl
Outerchr14:97211414..97212385hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971174, essv6792179, essv6862766, essv6936478, essv6959816, essv6945301, essv6741352, essv6681877, essv6815727, essv6809633, essv6973640, essv6870959, essv6772380, essv6803712, essv6717108, essv6720998, essv6808509, essv6876908, essv6838910, essv6831618, essv6894935, essv6891544, essv6924647, essv6689254, essv6977813, essv6673685, essv6706484, essv6800556, essv6732444, essv6828028, essv6846193, essv6702774, essv6966311, essv6747083, essv6885285, essv6920525, essv6941562, essv6949408, essv6916397, essv6796337, essv6897866, essv6749904, essv6806614, essv6685369, essv6738118, essv6842752, essv6823950, essv6724783, essv6932189, essv6713261, essv6728616, essv6882568, essv6836998, essv6709762, essv6901620, essv6761184, essv6857708, essv6812447, essv6928189, essv6744245, essv6691874, essv6912913, essv6788087, essv6740575, essv6774997, essv6698978, essv6678137, essv6695895, essv6835171, essv6867548, essv6953561, essv6879703
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM044, SSM033, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, 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)esv2749075
Frequency
Sample Size96
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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