A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748884



Internal ID10329854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76347414..76347871hg38UCSC Ensembl
Outerchr14:76813757..76814214hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894916, essv6685351, essv6820060, essv6779742, essv6681863, essv6724770, essv6867526, essv6912898, essv6815706, essv6720979, essv6924633, essv6901602, essv6932171, essv6885273, essv6803697, essv6678109, essv6702755, essv6783861, essv6775977, essv6838895, essv6792159, essv6728601, essv6768730, essv6835152, essv6842734, essv6882551, essv6732431, essv6971155, essv6800537, essv6879688, essv6688513, essv6673653, essv6713255, essv6928171, essv6916388, essv6909158, essv6977774, essv6831601, essv6823930, essv6891528, essv6897857, essv6959782
SamplesSSM083, SSM045, SSM046, SSM064, SSM079, SSM097, SSM039, SSM073, SSM093, SSM042, SSM028, SSM084, SSM047, SSM018, SSM029, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM033, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM077, SSM070, SSM095, SSM034, SSM099, SSM098, 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)esv2748884
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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