A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567072



Internal ID18421462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177396458..177396632hg38UCSC Ensembl
Outerchr5:177396417..177396676hg38UCSC Ensembl
Innerchr5:176823459..176823633hg19UCSC Ensembl
Outerchr5:176823418..176823677hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv373e215
Supporting Variantsessv9765819
Samples
Known GenesSLC34A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567072
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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