A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10338689



Internal ID340505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236719041..236728677hg38UCSC Ensembl
chr1:236882341..236891977hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg389637
hg199637
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589225
Supporting Variants
SamplesNA11832
Known GenesACTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10338689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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