A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647087



Internal ID6687143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42655133..42656697hg38UCSC Ensembl
Innerchr21:42655153..42656677hg38UCSC Ensembl
Outerchr21:42655113..42656717hg38UCSC Ensembl
chr21:44075243..44076807hg19UCSC Ensembl
Innerchr21:44075263..44076787hg19UCSC Ensembl
Outerchr21:44075223..44076827hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16324821
SamplesHG01612
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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