A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641248



Internal ID6681333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74877348..74881649hg38UCSC Ensembl
Innerchr17:74877355..74881642hg38UCSC Ensembl
Outerchr17:74877341..74881656hg38UCSC Ensembl
chr17:72873477..72877779hg19UCSC Ensembl
Innerchr17:72873484..72877772hg19UCSC Ensembl
Outerchr17:72873470..72877786hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384302
hg194303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740482, essv15740480, essv15740481, essv15740479
SamplesHG01924, HG01094, NA20513, HG03625
Known GenesFADS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641248
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer