A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606484



Internal ID6993420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119356222..119367439hg38UCSC Ensembl
Innerchr5:119356722..119366939hg38UCSC Ensembl
Outerchr5:119355222..119368439hg38UCSC Ensembl
chr5:118691917..118703134hg19UCSC Ensembl
Innerchr5:118692417..118702634hg19UCSC Ensembl
Outerchr5:118690917..118704134hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3811218
hg1911218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12033662
SamplesNA06985
Known GenesTNFAIP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer