A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621449



Internal ID6661628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109959589..110304023hg38UCSC Ensembl
Innerchr9:109959739..110303873hg38UCSC Ensembl
Outerchr9:109959439..110304173hg38UCSC Ensembl
chr9:112721869..113066303hg19UCSC Ensembl
Innerchr9:112722019..113066153hg19UCSC Ensembl
Outerchr9:112721719..113066453hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38344435
hg19344435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13596648, essv13596645, essv13596646, essv13596647
SamplesHG00266, NA19917, NA19380, HG01602
Known GenesAKAP2, C9orf152, PALM2-AKAP2, TXN, TXNDC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621449
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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