A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309561



Internal ID5163382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226451269..226456154hg38UCSC Ensembl
Innerchr1:226451269..226456154hg38UCSC Ensembl
Outerchr1:226450769..226456654hg38UCSC Ensembl
chr1:226638970..226643855hg19UCSC Ensembl
Innerchr1:226638970..226643855hg19UCSC Ensembl
Outerchr1:226638470..226644355hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384886
hg194886
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589013
Supporting Variants
SamplesNA18595
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309561
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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