A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762119



Internal ID18389679
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 StatusS
Merged Variantsesv3563372
Supporting Variants
Samples
Known GenesABLIM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762119
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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