A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765819



Internal ID18393379
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 StatusS
Merged Variantsesv3567072
Supporting Variants
Samples
Known GenesSLC34A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765819
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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