A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564972



Internal ID18419362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168589536..168589598hg38UCSC Ensembl
chr4:169510687..169510749hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763719
Samples
Known GenesPALLD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564972
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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