A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868495



Internal ID5996037
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604703
Supporting Variants
SamplesNA19397
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868495
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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