A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920113



Internal ID6545406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41880319..41884168hg38UCSC Ensembl
chr1:42345990..42349839hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383850
hg193850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585832
Supporting Variants
SamplesHG01198
Known GenesHIVEP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920113
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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