A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726184



Internal ID9960490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169472455..169472814hg38UCSC Ensembl
Outerchr3:169190243..169190602hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918091, essv6736477, essv6798143, essv6785705, essv6802093, essv6938330, essv6767004, essv6679792, essv6973594, essv6810800, essv6770174, essv6675847, essv6789820, essv6875198, essv6848089, essv6962599, essv6882331, essv6704402, essv6813738, essv6892890, essv6864772, essv6854237
SamplesSSM027, SSM064, SSM065, SSM087, SSM073, SSM050, SSM092, SSM069, SSM029, SSM089, SSM017, SSM032, SSM086, SSM033, SSM040, SSM072, SSM077, SSM076, SSM022, SSM070, SSM098, SSM012
Known GenesMECOM
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)esv2726184
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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