A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731574



Internal ID10315210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:10070516..10070858hg38UCSC Ensembl
Outerchr6:10070749..10071091hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903645, essv6896703, essv6811219, essv6886943, essv6865481, essv6798743, essv6974642, essv6723142, essv6860714, essv6854687, essv6794564, essv6708333, essv6848991, essv6826292, essv6687169, essv6893416, essv6907444, essv6899605, essv6683924, essv6890124, essv6969270, essv6837337, essv6670997, essv6700961, essv6786293, essv6855107, essv6956866, essv6963593, essv6676457, essv6943268, essv6881328, essv6719319, essv6818104
SamplesSSM100, SSM083, SSM071, SSM027, SSM045, SSM011, SSM087, SSM097, SSM039, SSM013, SSM088, SSM041, SSM023, SSM028, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM072, SSM078, SSM080, SSM076, SSM034, SSM099, 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)esv2731574
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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