A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13597166



Internal ID3598982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110153125..110182880hg38UCSC Ensembl
chr9:112915405..112945160hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3829756
hg1929756
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621456
Supporting Variants
SamplesNA19380
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13597166
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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