A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607324



Internal ID6994258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157906013..157907722hg38UCSC Ensembl
Innerchr5:157906163..157907572hg38UCSC Ensembl
Outerchr5:157905863..157907872hg38UCSC Ensembl
chr5:157333021..157334730hg19UCSC Ensembl
Innerchr5:157333171..157334580hg19UCSC Ensembl
Outerchr5:157332871..157334880hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381710
hg191710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12111607, essv12111604, essv12111609, essv12111606, essv12111605, essv12111608
SamplesNA18870, NA19314, NA19041, NA19461, NA20299, HG03476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607324
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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