A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15378657



Internal ID5380473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14281338..14282622hg38UCSC Ensembl
Innerchr16:14281338..14282622hg38UCSC Ensembl
Outerchr16:14281107..14282829hg38UCSC Ensembl
chr16:14375195..14376479hg19UCSC Ensembl
Innerchr16:14375195..14376479hg19UCSC Ensembl
Outerchr16:14374964..14376686hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638000
Supporting Variants
SamplesHG04194
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15378657
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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