A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604116



Internal ID6991146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15738052..15742595hg38UCSC Ensembl
Innerchr5:15738078..15742570hg38UCSC Ensembl
Outerchr5:15738027..15742621hg38UCSC Ensembl
chr5:15738161..15742704hg19UCSC Ensembl
Innerchr5:15738187..15742679hg19UCSC Ensembl
Outerchr5:15738136..15742730hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg384544
hg194544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11819278
SamplesHG01142
Known GenesFBXL7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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