A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920115



Internal ID6545408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41880319..41884168hg38UCSC Ensembl
chr1:42345990..42349839hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383850
hg193850
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585833
Supporting Variants
SamplesHG03196
Known GenesHIVEP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920115
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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