A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763026



Internal ID18737272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94577823..94578127hg38UCSC Ensembl
Outerchr4:94577750..94578185hg38UCSC Ensembl
Innerchr4:95498974..95499278hg19UCSC Ensembl
Outerchr4:95498901..95499336hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3564279
Supporting Variants
Samples
Known GenesPDLIM5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763026
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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