A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10324480



Internal ID6284436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233298946..233310297hg38UCSC Ensembl
Innerchr1:233298949..233310294hg38UCSC Ensembl
Outerchr1:233298943..233310300hg38UCSC Ensembl
chr1:233434692..233446043hg19UCSC Ensembl
Innerchr1:233434695..233446040hg19UCSC Ensembl
Outerchr1:233434689..233446046hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3811352
hg1911352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589147
Supporting Variants
SamplesNA19818
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10324480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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