A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319030



Internal ID6320846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36032869..36035021hg38UCSC Ensembl
Innerchr21:36032869..36035021hg38UCSC Ensembl
Outerchr21:36032731..36035261hg38UCSC Ensembl
chr21:37405167..37407319hg19UCSC Ensembl
Innerchr21:37405167..37407319hg19UCSC Ensembl
Outerchr21:37405029..37407559hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg382153
hg192153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646959
Supporting Variants
SamplesHG01080
Known GenesSETD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319030
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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