A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10312410



Internal ID3115218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228119517..228128633hg38UCSC Ensembl
Innerchr1:228119517..228128633hg38UCSC Ensembl
Outerchr1:228119017..228129133hg38UCSC Ensembl
chr1:228307218..228316334hg19UCSC Ensembl
Innerchr1:228307218..228316334hg19UCSC Ensembl
Outerchr1:228306718..228316834hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389117
hg199117
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589045
Supporting Variants
SamplesHG02734
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10312410
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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