A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062123



Internal ID6013450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130162509..130163025hg38UCSC Ensembl
Innerchr5:130162559..130162975hg38UCSC Ensembl
Outerchr5:130162459..130163075hg38UCSC Ensembl
chr5:129498202..129498718hg19UCSC Ensembl
Innerchr5:129498252..129498668hg19UCSC Ensembl
Outerchr5:129498152..129498768hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606773
Supporting Variants
SamplesNA19429
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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