A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605775



Internal ID6992712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91315492..91331826hg38UCSC Ensembl
Innerchr5:91315642..91331676hg38UCSC Ensembl
Outerchr5:91315342..91331976hg38UCSC Ensembl
chr5:90611309..90627643hg19UCSC Ensembl
Innerchr5:90611459..90627493hg19UCSC Ensembl
Outerchr5:90611159..90627793hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3816335
hg1916335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11979612
SamplesNA18953
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605775
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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