A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719952



Internal ID10303588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38844326..38844690hg38UCSC Ensembl
Outerchr2:39071468..39071832hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825304, essv6864317, essv6886205, essv6669447, essv6942143, essv6929403, essv6922046, essv6683079, essv6962021, essv6946792, essv6853679, essv6910360, essv6846421, essv6896052, essv6797777, essv6722290, essv6686395, essv6880628, essv6813429, essv6914230, essv6898841, essv6972887, essv6718457, essv6836479, essv6892592, essv6801838, essv6816927, essv6847490, essv6821472, essv6810547, essv6729914, essv6704122, essv6877868, essv6710874, essv6804642, essv6707538, essv6889258, essv6868947, essv6699941, essv6781200, essv6955258, essv6871944, essv6785323, essv6906390, essv6793614, essv6675494, essv6726139, essv6697193, essv6859519
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM068, SSM040, SSM072, SSM020, SSM015, SSM078, SSM016, SSM080, SSM077, SSM076, SSM091, SSM034, SSM099, SSM098
Known GenesDHX57
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)esv2719952
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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