A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10034635



Internal ID4084747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101822778..101824029hg38UCSC Ensembl
Innerchr1:101822778..101824029hg38UCSC Ensembl
Outerchr1:101822407..101824410hg38UCSC Ensembl
chr1:102288334..102289585hg19UCSC Ensembl
Innerchr1:102288334..102289585hg19UCSC Ensembl
Outerchr1:102287963..102289966hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586979
Supporting Variants
SamplesHG03713
Known GenesOLFM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10034635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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