A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6104122



Internal ID9081525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715445..42719680hg38UCSC Ensembl
chr21:44135555..44139790hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670844
Supporting Variants
SamplesHG00377
Known GenesPDE9A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6104122
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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