A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749619



Internal ID10330589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70480463..70480842hg38UCSC Ensembl
Outerchr1:70946146..70946525hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699647, essv6864012, essv6844266, essv6836232, essv6793345, essv6972443, essv6707300, essv6669632, essv6910103, essv6898642, essv6729673, essv6686189, essv6682868, essv6821237, essv6825030, essv6816640, essv6889048, essv6804444, essv6954825, essv6789205, essv6946542, essv6725895, essv6773490, essv6906141, essv6703902, essv6807414, essv6895884, essv6718202, essv6892366, essv6902582, essv6797506, essv6859246, essv6692828, essv6769576, essv6710639, essv6868752, essv6813205, essv6675248, essv6961642, essv6847097, essv6880460, essv6785040, essv6669027, essv6853308
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM074, SSM042, SSM088, SSM041, SSM090, SSM047, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM066, SSM040, SSM072, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM070, SSM034, SSM099, SSM098
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)esv2749619
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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