A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062117



Internal ID5622258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130070016..130075272hg38UCSC Ensembl
Innerchr5:130070027..130075261hg38UCSC Ensembl
Outerchr5:130070005..130075283hg38UCSC Ensembl
chr5:129405709..129410965hg19UCSC Ensembl
Innerchr5:129405720..129410954hg19UCSC Ensembl
Outerchr5:129405698..129410976hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg385257
hg195257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606772
Supporting Variants
SamplesNA19054
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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