A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639534



Internal ID6679626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87842696..87844587hg38UCSC Ensembl
Innerchr16:87842696..87844587hg38UCSC Ensembl
Outerchr16:87842468..87844808hg38UCSC Ensembl
chr16:87876302..87878193hg19UCSC Ensembl
Innerchr16:87876302..87878193hg19UCSC Ensembl
Outerchr16:87876074..87878414hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381892
hg191892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15556039, essv15556038
SamplesHG00610, HG01858
Known GenesSLC7A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639534
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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