A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563372



Internal ID18417762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7994085..7995097hg38UCSC Ensembl
Outerchr4:7993919..7995276hg38UCSC Ensembl
Innerchr4:7995812..7996824hg19UCSC Ensembl
Outerchr4:7995646..7997003hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381358
hg191358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762119
Samples
Known GenesABLIM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563372
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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