A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16324820



Internal ID6326636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42641558..42685014hg38UCSC Ensembl
chr21:44061668..44105124hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3843457
hg1943457
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647086
Supporting Variants
SamplesNA19247
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16324820
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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