A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13504902



Internal ID3506718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68339428..68382871hg38UCSC Ensembl
chr9:70954344..70997787hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3843444
hg1943444
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620543
Supporting Variants
SamplesNA18562
Known GenesPGM5, PGM5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13504902
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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