A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639807



Internal ID7026585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5181918..5182432hg38UCSC Ensembl
Innerchr17:5181918..5182432hg38UCSC Ensembl
Outerchr17:5181629..5182934hg38UCSC Ensembl
chr17:5085213..5085727hg19UCSC Ensembl
Innerchr17:5085213..5085727hg19UCSC Ensembl
Outerchr17:5084924..5086229hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15599837, essv15599823, essv15599844, essv15599853, essv15599848, essv15599849, essv15599850, essv15599855, essv15599820, essv15599856, essv15599838, essv15599826, essv15599841, essv15599829, essv15599833, essv15599852, essv15599851, essv15599821, essv15599840, essv15599839, essv15599828, essv15599859, essv15599854, essv15599824, essv15599858, essv15599842, essv15599846, essv15599847, essv15599836, essv15599832, essv15599830, essv15599825, essv15599827, essv15599857, essv15599822, essv15599835, essv15599831, essv15599843, essv15599845, essv15599834
SamplesHG01485, NA19700, HG02610, NA18924, NA19909, NA18508, HG03175, HG03247, NA18881, NA19092, HG03521, HG02895, HG03464, HG02811, NA20317, NA18498, NA19130, NA18874, NA20355, NA19209, HG02479, HG02716, NA19707, HG02678, NA18871, HG02555, NA19114, HG03476, HG02979, HG03046, NA20296, NA19017, HG02455, HG02010, HG03127, NA19324, HG01912, NA20334, HG01886, HG02343
Known GenesZNF594
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639807
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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