A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727810



Internal ID10311446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:71963908..71964253hg38UCSC Ensembl
Outerchr4:72829625..72829970hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893061, essv6860213, essv6825892, essv6798355, essv6848341, essv6794180, essv6700513, essv6906977, essv6881059, essv6836989, essv6973898, essv6817569, essv6865003, essv6883854, essv6851353, essv6718934, essv6704573, essv6942812, essv6869345, essv6821992, essv6903288, essv6670320, essv6962893, essv6899292, essv6676040, essv6889753, essv6886613, essv6854489, essv6956179
SamplesSSM100, SSM083, SSM071, SSM027, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM088, SSM023, SSM090, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM040, SSM072, SSM078, SSM080, SSM095, SSM098
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)esv2727810
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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