A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747949



Internal ID18722195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50983023..50986506hg38UCSC Ensembl
Outerchr12:50982946..50986567hg38UCSC Ensembl
Innerchr12:51376806..51380289hg19UCSC Ensembl
Outerchr12:51376729..51380350hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383622
hg193622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549202
Supporting Variants
Samples
Known GenesSLC11A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747949
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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