A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606628



Internal ID6993563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124203848..124210644hg38UCSC Ensembl
Innerchr5:124203848..124210644hg38UCSC Ensembl
Outerchr5:124203714..124210770hg38UCSC Ensembl
chr5:123539541..123546337hg19UCSC Ensembl
Innerchr5:123539541..123546337hg19UCSC Ensembl
Outerchr5:123539407..123546463hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386797
hg196797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12046145, essv12046143, essv12046144
SamplesNA20294, NA19904, NA19390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606628
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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