A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548641



Internal ID18749717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2843757..2844119hg38UCSC Ensembl
Outerchr12:2843737..2844200hg38UCSC Ensembl
Innerchr12:2952923..2953285hg19UCSC Ensembl
Outerchr12:2952903..2953366hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747388
Samples
Known GenesLOC100507424
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548641
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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