A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472490



Internal ID5688388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48399728..48406381hg38UCSC Ensembl
Innerchr16:48399761..48406348hg38UCSC Ensembl
Outerchr16:48399695..48406414hg38UCSC Ensembl
chr16:48433639..48440292hg19UCSC Ensembl
Innerchr16:48433672..48440259hg19UCSC Ensembl
Outerchr16:48433606..48440325hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg386654
hg196654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638575
Supporting Variants
SamplesNA19084
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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