A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10271286



Internal ID3872372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205647033..205648007hg38UCSC Ensembl
Innerchr1:205647116..205647957hg38UCSC Ensembl
Outerchr1:205646939..205648101hg38UCSC Ensembl
chr1:205616161..205617135hg19UCSC Ensembl
Innerchr1:205616244..205617085hg19UCSC Ensembl
Outerchr1:205616067..205617229hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588641
Supporting Variants
SamplesHG03515
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10271286
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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