A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501624



Internal ID5503440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68284391..68299188hg38UCSC Ensembl
Innerchr16:68284436..68299143hg38UCSC Ensembl
Outerchr16:68284346..68299233hg38UCSC Ensembl
chr16:68318294..68333091hg19UCSC Ensembl
Innerchr16:68318339..68333046hg19UCSC Ensembl
Outerchr16:68318249..68333136hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3814798
hg1914798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638904
Supporting Variants
SamplesHG00533
Known GenesSLC7A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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