A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588849



Internal ID6976265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217654904..217656074hg38UCSC Ensembl
Innerchr1:217654925..217656053hg38UCSC Ensembl
Outerchr1:217654883..217656095hg38UCSC Ensembl
chr1:217828246..217829416hg19UCSC Ensembl
Innerchr1:217828267..217829395hg19UCSC Ensembl
Outerchr1:217828225..217829437hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381171
hg191171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10295263, essv10295265, essv10295267, essv10295264, essv10295266
SamplesHG03040, HG02634, HG02887, HG02799, HG03198
Known GenesSPATA17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588849
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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