A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15555206



Internal ID5557022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87744196..87752293hg38UCSC Ensembl
chr16:87777802..87785899hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg388098
hg198098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639525
Supporting Variants
SamplesHG00266
Known GenesKLHDC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15555206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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