A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607493



Internal ID6994427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:165562760..165568707hg38UCSC Ensembl
Innerchr5:165562768..165568699hg38UCSC Ensembl
Outerchr5:165562752..165568715hg38UCSC Ensembl
chr5:164989765..164995712hg19UCSC Ensembl
Innerchr5:164989773..164995704hg19UCSC Ensembl
Outerchr5:164989757..164995720hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385948
hg195948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12124296
SamplesHG02113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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