A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10307435



Internal ID5415543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224473752..224474617hg38UCSC Ensembl
Innerchr1:224473752..224474617hg38UCSC Ensembl
Outerchr1:224473523..224474832hg38UCSC Ensembl
chr1:224661454..224662319hg19UCSC Ensembl
Innerchr1:224661454..224662319hg19UCSC Ensembl
Outerchr1:224661225..224662534hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588973
Supporting Variants
SamplesNA18949
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10307435
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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