A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604863



Internal ID6991891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42111542..42117811hg38UCSC Ensembl
Innerchr5:42112042..42117311hg38UCSC Ensembl
Outerchr5:42110542..42118811hg38UCSC Ensembl
chr5:42111644..42117913hg19UCSC Ensembl
Innerchr5:42112144..42117413hg19UCSC Ensembl
Outerchr5:42110644..42118913hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg386270
hg196270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882275, essv11882274, essv11882273
SamplesNA19914, NA19041, NA19625
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604863
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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