A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620560



Internal ID6660741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69474028..69502727hg38UCSC Ensembl
chr9:72088944..72117643hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3828700
hg1928700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13511448, essv13511438, essv13511447, essv13511443, essv13511449, essv13511435, essv13511436, essv13511434, essv13511445, essv13511440, essv13511450, essv13511437, essv13511442, essv13511444, essv13511446, essv13511441, essv13511439, essv13511433, essv13511432
SamplesHG00313, HG01438, HG02049, HG02805, HG01551, HG00692, HG03583, HG01589, NA19835, NA19457, NA21144, NA19676, HG02019, HG00268, HG03673, NA19318, HG00324, HG02051, HG01578
Known GenesAPBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620560
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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