A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280551



Internal ID3452082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208469977..208471701hg38UCSC Ensembl
Innerchr1:208469977..208471701hg38UCSC Ensembl
Outerchr1:208469859..208471872hg38UCSC Ensembl
chr1:208643322..208645046hg19UCSC Ensembl
Innerchr1:208643322..208645046hg19UCSC Ensembl
Outerchr1:208643204..208645217hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588688
Supporting Variants
SamplesHG03078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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