A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16323571



Internal ID6325387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41316747..41318377hg38UCSC Ensembl
Innerchr21:41316747..41318377hg38UCSC Ensembl
Outerchr21:41316498..41318639hg38UCSC Ensembl
chr21:42688674..42690304hg19UCSC Ensembl
Innerchr21:42688674..42690304hg19UCSC Ensembl
Outerchr21:42688425..42690566hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381631
hg191631
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647058
Supporting Variants
SamplesHG02035
Known GenesFAM3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16323571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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