A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661361



Internal ID9580780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121904301..121906074hg38UCSC Ensembl
chr12:122342207..122343980hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381774
hg191774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5608295, essv5959103, essv6476583, essv6088927, essv6515603, essv6460923, essv6581604, essv5702097, essv5495057, essv6521965, essv5455037, essv6339456, essv5836822, essv5689374, essv5983400
SamplesNA19377, NA19382, NA19138, NA19247, NA19657, NA19707, NA19462, NA19469, NA19108, HG01108, NA19376, NA19785, NA19093, NA19346, NA18487
Known GenesPSMD9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661361
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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