A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548843



Internal ID18749919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19042855..19042916hg38UCSC Ensembl
chr12:19195789..19195850hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747590
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548843
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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