A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15354659



Internal ID2814523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47684..48970hg38UCSC Ensembl
Innerchr16:47723..48931hg38UCSC Ensembl
Outerchr16:47645..49009hg38UCSC Ensembl
chr16:97684..98970hg19UCSC Ensembl
Innerchr16:97723..98931hg19UCSC Ensembl
Outerchr16:97645..99009hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637535
Supporting Variants
SamplesHG02485
Known GenesPOLR3K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15354659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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