A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746103



Internal ID10327073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78484761..78858070hg38UCSC Ensembl
Outerchr12:78878541..79251850hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38373310
hg19373310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695584, essv6959326, essv6936172, essv6812255, essv6827742, essv6879530, essv6888030, essv6965834, essv6867214, essv6687711, essv6866065, essv6787798, essv6709536, essv6827744, essv6891320, essv6944997, essv6725598, essv6702491, essv6732167, essv6752602, essv6940372, essv6904946, essv6787797, essv6927965, essv6867215, essv6803546, essv6965833, essv6862439, essv6851250, essv6866076
SamplesSSM027, SSM011, SSM097, SSM039, SSM013, SSM073, SSM093, SSM088, SSM041, SSM057, SSM023, SSM021, SSM047, SSM069, SSM096, SSM026, SSM089, SSM019, SSM001, SSM086, SSM005, SSM080, SSM037, SSM076, SSM022
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)esv2746103
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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