A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549295



Internal ID18750371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61876220..61884719hg38UCSC Ensembl
Outerchr12:61874583..61885219hg38UCSC Ensembl
Innerchr12:62270001..62278500hg19UCSC Ensembl
Outerchr12:62268364..62279000hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3810637
hg1910637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748042
Samples
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549295
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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