A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10343247



Internal ID3333077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239062296..239084253hg38UCSC Ensembl
Innerchr1:239062296..239084253hg38UCSC Ensembl
Outerchr1:239061796..239084753hg38UCSC Ensembl
chr1:239225596..239247553hg19UCSC Ensembl
Innerchr1:239225596..239247553hg19UCSC Ensembl
Outerchr1:239225096..239248053hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3821958
hg1921958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589268
Supporting Variants
SamplesHG02976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10343247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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