A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587825



Internal ID6975249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166403397..166410440hg38UCSC Ensembl
Innerchr1:166403408..166410429hg38UCSC Ensembl
Outerchr1:166403386..166410451hg38UCSC Ensembl
chr1:166372634..166379677hg19UCSC Ensembl
Innerchr1:166372645..166379666hg19UCSC Ensembl
Outerchr1:166372623..166379688hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg387044
hg197044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10180845, essv10180853, essv10180835, essv10180849, essv10180825, essv10180855, essv10180829, essv10180856, essv10180846, essv10180824, essv10180831, essv10180826, essv10180854, essv10180832, essv10180827, essv10180852, essv10180830, essv10180840, essv10180842, essv10180837, essv10180843, essv10180847, essv10180834, essv10180841, essv10180833, essv10180839, essv10180836, essv10180850, essv10180844, essv10180828, essv10180857, essv10180848, essv10180823, essv10180851, essv10180838
SamplesHG01485, HG02339, HG03378, HG02583, HG03241, NA19377, NA18510, NA19315, HG03135, NA19119, NA19404, HG02703, HG01398, HG01628, NA18868, NA18560, NA19317, HG02502, HG02442, NA19347, NA19043, HG02953, HG02508, NA19042, NA19099, HG03451, NA19436, NA19017, NA19712, HG03127, NA19324, NA19360, NA19093, HG02947, NA19463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587825
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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