A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10256409



Internal ID258225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198034469..198037893hg38UCSC Ensembl
Innerchr1:198034469..198037893hg38UCSC Ensembl
Outerchr1:198034161..198038180hg38UCSC Ensembl
chr1:198003599..198007023hg19UCSC Ensembl
Innerchr1:198003599..198007023hg19UCSC Ensembl
Outerchr1:198003291..198007310hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383425
hg193425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588510
Supporting Variants
SamplesHG01083
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10256409
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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