A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725874



Internal ID10309510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640075..126640443hg38UCSC Ensembl
Outerchr3:126358918..126359286hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859945, essv6938293, essv6836748, essv6854186, essv6704373, essv6899101, essv6789791, essv6889550, essv6821766, essv6929731, essv6669973, essv6955825, essv6785670, essv6922393, essv6951204, essv6817326, essv6833147, essv6766978, essv6844390, essv6864737, essv6947120, essv6906763, essv6892863, essv6673510, essv6807867, essv6848035, essv6886432, essv6718724, essv6810772, essv6813701, essv6973541, essv6880882, essv6849353, essv6726439, essv6962544, essv6781515
SamplesSSM100, SSM083, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM087, SSM097, SSM088, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM031, SSM044, SSM014, SSM086, SSM085, SSM068, SSM040, SSM082, SSM020, SSM078, SSM005, SSM077, SSM076, SSM022, SSM070, SSM025, SSM098
Known GenesTXNRD3
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)esv2725874
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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