A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363714



Internal ID6319668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4580701..4598188hg38UCSC Ensembl
Innerchr16:4581201..4597688hg38UCSC Ensembl
Outerchr16:4579701..4599188hg38UCSC Ensembl
chr16:4630702..4648189hg19UCSC Ensembl
Innerchr16:4631202..4647689hg19UCSC Ensembl
Outerchr16:4629702..4649189hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3817488
hg1917488
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637698
Supporting Variants
SamplesNA19917
Known GenesC16orf96
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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