A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587804



Internal ID6975228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165452566..165454971hg38UCSC Ensembl
Innerchr1:165452567..165454970hg38UCSC Ensembl
Outerchr1:165452565..165454972hg38UCSC Ensembl
chr1:165421803..165424208hg19UCSC Ensembl
Innerchr1:165421804..165424207hg19UCSC Ensembl
Outerchr1:165421802..165424209hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382406
hg192406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10176829, essv10176813, essv10176830, essv10176828, essv10176835, essv10176814, essv10176821, essv10176837, essv10176827, essv10176818, essv10176815, essv10176839, essv10176833, essv10176834, essv10176820, essv10176817, essv10176819, essv10176826, essv10176816, essv10176831, essv10176840, essv10176824, essv10176823, essv10176838, essv10176832, essv10176836, essv10176825, essv10176822
SamplesNA19222, HG02610, HG03484, HG03378, NA19190, HG02769, HG02549, HG02645, NA18868, HG03352, HG02946, NA18864, HG03058, HG01124, HG03343, HG03291, NA18516, HG02557, HG02314, HG03469, HG03084, NA20348, HG02974, NA19223, HG02676, NA19096, NA19030, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587804
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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