A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750310



Internal ID10331280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1241403..1256854hg38UCSC Ensembl
Outerchr16:1291404..1306855hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3815452
hg1915452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831766, essv6747179, essv6699063, essv6824085, essv6942806, essv6702921, essv6909332, essv6768853, essv6696058, essv6824086, essv6784040, essv6724929, essv6895062, essv6792324, essv6949568, essv6900973, essv6732579, essv6713396, essv6665432, essv6761314, essv6784041, essv6905345, essv6882674, essv6932347, essv6788239, essv6851947, essv6681993, essv6744351, essv6842916, essv6916537, essv6920701, essv6688656, essv6901751, essv6721140, essv6942818, essv6916536, essv6732578
SamplesSSM100, SSM024, SSM045, SSM064, SSM079, SSM038, SSM039, SSM013, SSM042, SSM084, SSM047, SSM069, SSM061, SSM029, SSM017, SSM035, SSM094, SSM003, SSM044, SSM014, SSM086, SSM033, SSM068, SSM081, SSM020, SSM016, SSM053, SSM037, SSM055, SSM070, SSM098, SSM012
Known GenesTPSAB1, TPSD1
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)esv2750310
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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