A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727777



Internal ID9962089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69094117..69094512hg38UCSC Ensembl
Outerchr4:69959835..69960230hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686831, essv6942808, essv6903283, essv6785914, essv6715051, essv6878248, essv6794178, essv6767151, essv6781742, essv6697582, essv6889747, essv6805051, essv6722805, essv6899286, essv6718928, essv6947348, essv6700508, essv6881056, essv6860205, essv6886611, essv6790029, essv6968844, essv6973885, essv6854477, essv6730423, essv6676035, essv6821987, essv6893059, essv6810917, essv6707986, essv6956175, essv6848332, essv6711404, essv6938506, essv6926408, essv6962889, essv6777713, essv6836984, essv6808033, essv6869339, essv6683553, essv6929971, essv6910864, essv6840800, essv6704566, essv6851287
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM047, SSM069, SSM029, SSM096, SSM026, SSM019, SSM035, SSM094, SSM032, SSM067, SSM044, SSM086, SSM068, SSM040, SSM020, SSM015, SSM076, SSM022, SSM070, SSM034, SSM043, 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)esv2727777
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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