A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620719



Internal ID7007589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75348480..75353831hg38UCSC Ensembl
Innerchr9:75348480..75353831hg38UCSC Ensembl
Outerchr9:75348132..75354133hg38UCSC Ensembl
chr9:77963396..77968747hg19UCSC Ensembl
Innerchr9:77963396..77968747hg19UCSC Ensembl
Outerchr9:77963048..77969049hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385352
hg195352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13526651, essv13526657, essv13526650, essv13526654, essv13526652, essv13526655, essv13526653, essv13526656
SamplesHG01465, HG01486, NA20541, HG01284, HG01791, NA20785, NA20504, HG00259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620719
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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