A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606773



Internal ID6993708
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12062118, essv12062120, essv12062123, essv12062119, essv12062122, essv12062121, essv12062124
SamplesHG02973, HG02337, NA19982, NA19256, HG02974, HG02343, NA19429
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606773
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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