A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16324932



Internal ID6326748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42717327..42718511hg38UCSC Ensembl
Innerchr21:42717357..42718481hg38UCSC Ensembl
Outerchr21:42717297..42718541hg38UCSC Ensembl
chr21:44137437..44138621hg19UCSC Ensembl
Innerchr21:44137467..44138591hg19UCSC Ensembl
Outerchr21:44137407..44138651hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647090
Supporting Variants
SamplesHG01747
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16324932
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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