A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749597



Internal ID9983881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70302426..70302746hg38UCSC Ensembl
Outerchr1:70768109..70768429hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718201, essv6906139, essv6864011, essv6821236, essv6880459, essv6941844, essv6725894, essv6847096, essv6816639, essv6832645, essv6859245, essv6895883, essv6829052, essv6972442, essv6853307, essv6722048, essv6797505, essv6961641, essv6844254, essv6707299, essv6669026, essv6793344
SamplesSSM071, SSM027, SSM045, SSM046, SSM011, SSM079, SSM087, SSM088, SSM041, SSM023, SSM029, SSM089, SSM094, SSM031, SSM044, SSM014, SSM086, SSM081, SSM072, SSM082, SSM078, SSM099
Known GenesANKRD13C
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)esv2749597
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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