A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728210



Internal ID10311846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:117583866..117584499hg38UCSC Ensembl
Outerchr4:118505021..118505654hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704634, essv6690057, essv6822041, essv6973982, essv6865077, essv6833400, essv6805100, essv6886666, essv6774239, essv6722849, essv6686891, essv6893105, essv6817660, essv6770383, essv6794238, essv6813953, essv6848434, essv6790090, essv6711457, essv6947392, essv6767195, essv6884376, essv6883900, essv6896470, essv6875373, essv6730472, essv6802263, essv6962982, essv6942866, essv6918310, essv6934241, essv6930023, essv6676104, essv6810974, essv6889805, essv6700581, essv6708040, essv6851886, essv6751259, essv6938567, essv6844586, essv6903338, essv6798412, essv6854570, essv6840838, essv6670424, essv6683612
SamplesSSM036, SSM071, SSM027, SSM024, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM074, SSM042, SSM041, SSM057, SSM023, SSM092, SSM084, SSM021, SSM047, SSM029, SSM096, SSM089, SSM017, SSM035, SSM032, SSM031, SSM086, SSM066, SSM085, SSM040, SSM072, SSM082, SSM020, SSM078, SSM077, SSM076, SSM022, SSM070, SSM095, SSM034, SSM099, SSM098, SSM012
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)esv2728210
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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