A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566537



Internal ID18767613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100923023..100923260hg38UCSC Ensembl
Outerchr1:100922979..100923323hg38UCSC Ensembl
Innerchr1:101388579..101388816hg19UCSC Ensembl
Outerchr1:101388535..101388879hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765284
Samples
Known GenesSLC30A7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566537
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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