A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620564



Internal ID6660745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69536166..69538119hg38UCSC Ensembl
Innerchr9:69536167..69538118hg38UCSC Ensembl
Outerchr9:69536165..69538120hg38UCSC Ensembl
chr9:72151082..72153035hg19UCSC Ensembl
Innerchr9:72151083..72153034hg19UCSC Ensembl
Outerchr9:72151081..72153036hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381954
hg191954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13511520, essv13511521, essv13511543, essv13511537, essv13511531, essv13511533, essv13511530, essv13511540, essv13511523, essv13511524, essv13511546, essv13511529, essv13511526, essv13511536, essv13511541, essv13511532, essv13511539, essv13511547, essv13511535, essv13511542, essv13511538, essv13511518, essv13511527, essv13511544, essv13511525, essv13511534, essv13511528, essv13511522, essv13511545, essv13511519
SamplesNA12043, NA12249, NA20527, HG03611, HG04056, HG00106, HG02660, HG03967, HG03696, NA20798, HG03812, HG00339, HG00158, NA21108, HG01623, HG01048, HG01583, HG03926, HG01556, NA12777, HG02058, NA20878, NA11892, HG03713, HG01077, HG04235, NA20525, NA20507, NA20513, NA20899
Known GenesAPBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620564
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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