A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620563



Internal ID6660744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69482682..69512490hg38UCSC Ensembl
chr9:72097598..72127406hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3829809
hg1929809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13511509, essv13511512, essv13511493, essv13511504, essv13511508, essv13511499, essv13511514, essv13511505, essv13511513, essv13511494, essv13511503, essv13511498, essv13511501, essv13511516, essv13511497, essv13511507, essv13511517, essv13511502, essv13511515, essv13511506, essv13511511, essv13511496, essv13511500, essv13511510, essv13511495
SamplesHG02784, HG02078, NA19355, HG01809, HG02325, HG03937, NA20317, NA18574, HG02655, NA20513, NA19235, NA20318, HG02943, HG00701, HG03027, NA21086, NA19434, HG02501, HG02010, NA19380, HG02700, HG04140, HG01846, HG01516, HG01507
Known GenesAPBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620563
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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