A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377530



Internal ID5064076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12828594..12841539hg38UCSC Ensembl
Innerchr16:12828594..12841539hg38UCSC Ensembl
Outerchr16:12828094..12842039hg38UCSC Ensembl
chr16:12922451..12935396hg19UCSC Ensembl
Innerchr16:12922451..12935396hg19UCSC Ensembl
Outerchr16:12921951..12935896hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3812946
hg1912946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637975
Supporting Variants
SamplesNA18537
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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