A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12033632



Internal ID4490320
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606480
Supporting Variants
SamplesHG03990
Known GenesTNFAIP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12033632
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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