A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15354833



Internal ID5356649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:165399..184707hg38UCSC Ensembl
Innerchr16:165400..184707hg38UCSC Ensembl
Outerchr16:165399..184708hg38UCSC Ensembl
chr16:215398..234706hg19UCSC Ensembl
Innerchr16:215399..234706hg19UCSC Ensembl
Outerchr16:215398..234707hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819309
hg1919309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637547
Supporting Variants
SamplesHG02182
Known GenesHBA1, HBA2, HBM, HBQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15354833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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