A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763354



Internal ID18737600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:129141064..129147750hg38UCSC Ensembl
Outerchr4:129140846..129148845hg38UCSC Ensembl
Innerchr4:130062219..130068905hg19UCSC Ensembl
Outerchr4:130062001..130070000hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3564607
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763354
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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