A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10299794



Internal ID1972943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221498886..221501378hg38UCSC Ensembl
Innerchr1:221498887..221501378hg38UCSC Ensembl
Outerchr1:221498886..221501379hg38UCSC Ensembl
chr1:221672228..221674720hg19UCSC Ensembl
Innerchr1:221672229..221674720hg19UCSC Ensembl
Outerchr1:221672228..221674721hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382493
hg192493
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588924
Supporting Variants
SamplesHG01840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10299794
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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