A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719890



Internal ID9954184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33556198..33556540hg38UCSC Ensembl
Outerchr2:33781265..33781607hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972871, essv6864311, essv6829267, essv6699930, essv6710864, essv6906381, essv6718447, essv6777222, essv6729908, essv6846342, essv6883460, essv6697188, essv6804633, essv6821461, essv6955243, essv6942130, essv6797767, essv6844118, essv6683072, essv6813424, essv6686389
SamplesSSM042, SSM089, SSM035, SSM072, SSM039, SSM067, SSM077, SSM085, SSM011, SSM029, SSM095, SSM047, SSM034, SSM038, SSM023, SSM079, SSM044, SSM074, SSM026, SSM014, SSM081
Known GenesRASGRP3
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)esv2719890
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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