A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640618



Internal ID7027393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43001393..43002273hg38UCSC Ensembl
Innerchr17:43001394..43002273hg38UCSC Ensembl
Outerchr17:43001393..43002274hg38UCSC Ensembl
chr17:41153410..41154290hg19UCSC Ensembl
Innerchr17:41153411..41154290hg19UCSC Ensembl
Outerchr17:41153410..41154291hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679156, essv15679147, essv15679111, essv15679119, essv15679161, essv15679122, essv15679162, essv15679123, essv15679121, essv15679133, essv15679118, essv15679143, essv15679159, essv15679157, essv15679134, essv15679140, essv15679163, essv15679164, essv15679154, essv15679158, essv15679160, essv15679142, essv15679155, essv15679146, essv15679112, essv15679150, essv15679136, essv15679141, essv15679131, essv15679114, essv15679120, essv15679135, essv15679117, essv15679115, essv15679127, essv15679128, essv15679132, essv15679129, essv15679149, essv15679152, essv15679153, essv15679130, essv15679124, essv15679145, essv15679116, essv15679148, essv15679151, essv15679113, essv15679137, essv15679125, essv15679138, essv15679139, essv15679126, essv15679144, essv15679165
SamplesHG02614, HG03052, HG03247, HG02337, NA20294, NA19098, NA18870, NA19920, NA19171, NA18489, NA19916, HG03105, NA20287, HG03040, NA19404, NA19383, NA19172, HG03380, HG03267, NA19445, NA18867, HG03270, HG03169, HG03160, NA19707, NA19152, HG01345, NA18910, HG02537, HG03563, NA18856, NA18853, NA20282, NA19257, HG02332, HG02635, NA19035, HG02613, HG03461, NA19454, HG02983, HG01894, NA18865, HG03127, NA19428, NA19467, NA18501, NA19351, NA19096, HG03445, HG03162, NA19430, HG02805, NA18522, NA19214
Known GenesRPL27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640618
Frequency
Sample Size2504
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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