A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748744



Internal ID9983028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59078537..59078911hg38UCSC Ensembl
Outerchr14:59545255..59545629hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728588, essv6678100, essv6862717, essv6900830, essv6873883, essv6823919, essv6673633, essv6897842, essv6966260, essv6949371, essv6812424, essv6924620, essv6788060, essv6868265, essv6971132, essv6928160, essv6941263, essv6831585, essv6977747, essv6820047, essv6809602, essv6806595, essv6932159, essv6857653, essv6879678, essv6882537, essv6867515, essv6709732, essv6689110, essv6800527, essv6851652, essv6842723, essv6846169, essv6796311, essv6783849
SamplesSSM100, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM079, SSM087, SSM093, SSM074, SSM088, SSM041, SSM028, SSM084, SSM018, SSM069, SSM029, SSM089, SSM019, SSM094, SSM032, SSM003, SSM031, SSM086, SSM085, SSM068, SSM081, SSM072, SSM020, SSM078, SSM005, SSM076, SSM091, SSM099
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)esv2748744
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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