A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549705



Internal ID18750781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102868088..102868186hg38UCSC Ensembl
chr12:103261866..103261964hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748452
Samples
Known GenesPAH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549705
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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