A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604703



Internal ID6991731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35418996..35425545hg38UCSC Ensembl
Innerchr5:35418996..35425545hg38UCSC Ensembl
Outerchr5:35418496..35426045hg38UCSC Ensembl
chr5:35419098..35425647hg19UCSC Ensembl
Innerchr5:35419098..35425647hg19UCSC Ensembl
Outerchr5:35418598..35426147hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg386550
hg196550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11868494, essv11868495
SamplesNA19397, NA18874
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604703
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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