A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752220



Internal ID18726466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57218732..57219001hg38UCSC Ensembl
Outerchr16:57218676..57219089hg38UCSC Ensembl
Innerchr16:57252644..57252913hg19UCSC Ensembl
Outerchr16:57252588..57253001hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553473
Supporting Variants
Samples
Known GenesRSPRY1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752220
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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