A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721109



Internal ID3271605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169029695..169030024hg38UCSC Ensembl
Outerchr2:169886205..169886534hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968403, essv6955464, essv6707635, essv6973125, essv6819721, essv6892694, essv6872033, essv6675607, essv6942275, essv6726261, essv6669652, essv6817077, essv6853872, essv6847685, essv6883552, essv6920418, essv6962224, essv6785445, essv6821588, essv6797902, essv6804733
SamplesSSM010, SSM027, SSM086, SSM091, SSM078, SSM031, SSM072, SSM032, SSM041, SSM028, SSM029, SSM003, SSM095, SSM069, SSM087, SSM046, SSM023, SSM079, SSM074, SSM026, SSM098
Known GenesABCB11
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)esv2721109
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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