A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630961



Internal ID6671094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121904311..121906083hg38UCSC Ensembl
Innerchr12:121904343..121906052hg38UCSC Ensembl
Outerchr12:121904280..121906115hg38UCSC Ensembl
chr12:122342217..122343989hg19UCSC Ensembl
Innerchr12:122342249..122343958hg19UCSC Ensembl
Outerchr12:122342186..122344021hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381773
hg191773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619979, essv14619976, essv14619952, essv14619982, essv14619962, essv14619949, essv14619984, essv14619945, essv14619964, essv14619975, essv14619971, essv14619944, essv14619947, essv14619974, essv14619973, essv14619953, essv14619961, essv14619957, essv14619946, essv14619948, essv14619943, essv14619950, essv14619963, essv14619960, essv14619959, essv14619983, essv14619955, essv14619967, essv14619951, essv14619965, essv14619954, essv14619956, essv14619958, essv14619980, essv14619977, essv14619941, essv14619966, essv14619978, essv14619968, essv14619969, essv14619970, essv14619981, essv14619972, essv14619942
SamplesHG03058, NA19030, HG03567, NA19026, NA19321, HG03112, NA19093, NA19310, NA18511, NA20294, NA19108, NA19308, NA19143, HG03376, HG03054, NA19309, NA19443, HG02968, HG03439, HG03445, NA18916, HG01247, NA19247, NA19377, HG03126, NA19785, HG02878, NA19657, HG02343, HG03073, NA19707, NA19462, NA19138, NA19376, HG02481, HG03123, HG02489, HG02837, NA19041, HG01108, HG02485, NA19346, HG02013, HG02855
Known GenesPSMD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630961
Frequency
Sample Size2504
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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