A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604368



Internal ID6991398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:23197731..23209829hg38UCSC Ensembl
Innerchr5:23197739..23209822hg38UCSC Ensembl
Outerchr5:23197724..23209837hg38UCSC Ensembl
chr5:23197840..23209938hg19UCSC Ensembl
Innerchr5:23197848..23209931hg19UCSC Ensembl
Outerchr5:23197833..23209946hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3812099
hg1912099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11841722
SamplesHG03558
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604368
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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