A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv373e215



Internal ID19010164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177396368..177396676hg38UCSC Ensembl
chr5:176823369..176823677hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3567072, esv3567071
Samples
Known GenesSLC34A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv373e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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