A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472487



Internal ID4910750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48044700..48051157hg38UCSC Ensembl
Innerchr16:48044700..48051157hg38UCSC Ensembl
Outerchr16:48044553..48051299hg38UCSC Ensembl
chr16:48078611..48085068hg19UCSC Ensembl
Innerchr16:48078611..48085068hg19UCSC Ensembl
Outerchr16:48078464..48085210hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg386458
hg196458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638573
Supporting Variants
SamplesNA12749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472487
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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