A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10163244



Internal ID165060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158899690..158959842hg38UCSC Ensembl
Innerchr1:158899690..158959842hg38UCSC Ensembl
Outerchr1:158899190..158960342hg38UCSC Ensembl
chr1:158869480..158929632hg19UCSC Ensembl
Innerchr1:158869480..158929632hg19UCSC Ensembl
Outerchr1:158868980..158930132hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3860153
hg1960153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587688
Supporting Variants
SamplesHG03571
Known GenesPYHIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10163244
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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