A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749887



Internal ID10330857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74837168..74837769hg38UCSC Ensembl
Outerchr15:75129509..75130110hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815822, essv6857889, essv6831733, essv6940775, essv6699046, essv6691954, essv6702881, essv6724893, essv6949534, essv6901721, essv6835274, essv6800662, essv6717218, essv6851891, essv6768825, essv6871058, essv6932307, essv6924772, essv6721101, essv6709845, essv6696012, essv6905309, essv6772499, essv6713366, essv6895035, essv6936608, essv6913005, essv6828130, essv6942507, essv6678247, essv6953691, essv6959998, essv6796448, essv6706586, essv6824056, essv6839044, essv6842880, essv6806704, essv6971279, essv6673863, essv6776093, essv6681967, essv6974784, essv6803797, essv6788194, essv6732538
SamplesSSM036, SSM083, SSM071, SSM024, SSM045, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM073, SSM074, SSM042, SSM041, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM026, SSM032, SSM003, SSM031, SSM044, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM080, SSM037, SSM077, SSM022, SSM025, SSM004, SSM043, SSM098, SSM012
Known GenesULK3
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)esv2749887
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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