A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606768



Internal ID6993703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129974091..129988409hg38UCSC Ensembl
Innerchr5:129974153..129988347hg38UCSC Ensembl
Outerchr5:129974029..129988471hg38UCSC Ensembl
chr5:129309784..129324102hg19UCSC Ensembl
Innerchr5:129309846..129324040hg19UCSC Ensembl
Outerchr5:129309722..129324164hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3814319
hg1914319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12062112, essv12062113
SamplesHG02187, HG00560
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606768
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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