A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891680



Internal ID18839390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485135..69500795hg38UCSC Ensembl
Outerchr9:69485135..69504046hg38UCSC Ensembl
Innerchr9:72100051..72115711hg19UCSC Ensembl
Outerchr9:72100051..72118962hg19UCSC Ensembl
Innerchr9:71289871..71305531hg18UCSC Ensembl
Outerchr9:71289871..71308782hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3818912
hg1918912
hg1818912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799057, essv25796336, essv25798750, essv25782868, essv25786264, essv25784220, essv25801266, essv25781108, essv25783681, essv25787455, essv25785706, essv25797484, essv25798406, essv25798290, essv25787714, essv25798364, essv25801147
Samples
Known GenesAPBA1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891680
Frequency
Sample Size3017
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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