A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607759



Internal ID6994690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179983496..179984602hg38UCSC Ensembl
Innerchr5:179983517..179984582hg38UCSC Ensembl
Outerchr5:179983476..179984623hg38UCSC Ensembl
chr5:179410496..179411602hg19UCSC Ensembl
Innerchr5:179410517..179411582hg19UCSC Ensembl
Outerchr5:179410476..179411623hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152202, essv12152201, essv12152203
SamplesHG00766, NA18560, HG01046
Known GenesRNF130
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607759
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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