A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585365



Internal ID6972889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17315453..17316481hg38UCSC Ensembl
Innerchr1:17315453..17316481hg38UCSC Ensembl
Outerchr1:17315297..17316627hg38UCSC Ensembl
chr1:17641948..17642976hg19UCSC Ensembl
Innerchr1:17641948..17642976hg19UCSC Ensembl
Outerchr1:17641792..17643122hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9874858, essv9874852, essv9874865, essv9874859, essv9874855, essv9874863, essv9874862, essv9874853, essv9874848, essv9874846, essv9874854, essv9874849, essv9874845, essv9874857, essv9874867, essv9874847, essv9874868, essv9874856, essv9874860, essv9874869, essv9874851, essv9874864, essv9874850, essv9874861, essv9874866
SamplesHG03378, HG02583, NA18486, HG02323, NA19443, HG03578, NA19130, HG02882, NA18867, NA19707, HG02090, HG01882, HG03446, NA19318, NA19095, HG01896, HG02282, NA20351, NA19713, NA20289, NA19102, HG03410, HG03470, HG03072, HG03439
Known GenesPADI4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585365
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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