A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606480



Internal ID6993416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119295625..119301319hg38UCSC Ensembl
Innerchr5:119295628..119301316hg38UCSC Ensembl
Outerchr5:119295622..119301322hg38UCSC Ensembl
chr5:118631320..118637014hg19UCSC Ensembl
Innerchr5:118631323..118637011hg19UCSC Ensembl
Outerchr5:118631317..118637017hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385695
hg195695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12033632, essv12033633
SamplesHG03990, HG04177
Known GenesTNFAIP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606480
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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