A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264459



Internal ID2201959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200094672..200095722hg38UCSC Ensembl
Innerchr1:200094672..200095722hg38UCSC Ensembl
Outerchr1:200094416..200096110hg38UCSC Ensembl
chr1:200063800..200064850hg19UCSC Ensembl
Innerchr1:200063800..200064850hg19UCSC Ensembl
Outerchr1:200063544..200065238hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588552
Supporting Variants
SamplesHG01985
Known GenesNR5A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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