A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10334903



Internal ID2221563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236337006..236342329hg38UCSC Ensembl
Innerchr1:236337008..236342327hg38UCSC Ensembl
Outerchr1:236337004..236342331hg38UCSC Ensembl
chr1:236500306..236505629hg19UCSC Ensembl
Innerchr1:236500308..236505627hg19UCSC Ensembl
Outerchr1:236500304..236505631hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385324
hg195324
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589213
Supporting Variants
SamplesHG01992
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10334903
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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