A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12143146



Internal ID3549157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177097976..177102179hg38UCSC Ensembl
Innerchr5:177097995..177102161hg38UCSC Ensembl
Outerchr5:177097958..177102198hg38UCSC Ensembl
chr5:176524977..176529180hg19UCSC Ensembl
Innerchr5:176524996..176529162hg19UCSC Ensembl
Outerchr5:176524959..176529199hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg384204
hg194204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607685
Supporting Variants
SamplesHG03132
Known GenesFGFR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12143146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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