A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619983



Internal ID4621799
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630961
Supporting Variants
SamplesNA19785
Known GenesPSMD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619983
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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