A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12085975



Internal ID1412364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144586771..144880834hg38UCSC Ensembl
chr5:143966334..144260397hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38294064
hg19294064
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607043
Supporting Variants
SamplesHG01280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12085975
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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