A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549296



Internal ID18403686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61901261..61901434hg38UCSC Ensembl
Outerchr12:61901214..61901479hg38UCSC Ensembl
Innerchr12:62295042..62295215hg19UCSC Ensembl
Outerchr12:62294995..62295260hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748043
Samples
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549296
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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