A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13596854



Internal ID5972120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110129325..110304387hg38UCSC Ensembl
chr9:112891605..113066667hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38175063
hg19175063
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621453
Supporting Variants
SamplesNA19380
Known GenesAKAP2, C9orf152, PALM2-AKAP2, TXN, TXNDC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13596854
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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