A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588174



Internal ID6975597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187667767..187701616hg38UCSC Ensembl
Innerchr1:187667767..187701616hg38UCSC Ensembl
Outerchr1:187667267..187702116hg38UCSC Ensembl
chr1:187636899..187670747hg19UCSC Ensembl
Innerchr1:187636899..187670747hg19UCSC Ensembl
Outerchr1:187636399..187671247hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3833850
hg1933849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10218357, essv10218354, essv10218355, essv10218353, essv10218356
SamplesHG02339, HG02505, HG03209, HG02479, HG02546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588174
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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