A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606611



Internal ID6993546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123526669..123528336hg38UCSC Ensembl
Innerchr5:123526701..123528304hg38UCSC Ensembl
Outerchr5:123526637..123528368hg38UCSC Ensembl
chr5:122862363..122864030hg19UCSC Ensembl
Innerchr5:122862395..122863998hg19UCSC Ensembl
Outerchr5:122862331..122864062hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381668
hg191668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12045390
SamplesHG01869
Known GenesCSNK1G3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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