A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595405



Internal ID6982723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16611164..16617242hg38UCSC Ensembl
Innerchr3:16611166..16617240hg38UCSC Ensembl
Outerchr3:16611162..16617244hg38UCSC Ensembl
chr3:16652671..16658749hg19UCSC Ensembl
Innerchr3:16652673..16658747hg19UCSC Ensembl
Outerchr3:16652669..16658751hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386079
hg196079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10938913, essv10938906, essv10938898, essv10938902, essv10938914, essv10938894, essv10938901, essv10938896, essv10938910, essv10938905, essv10938907, essv10938911, essv10938912, essv10938899, essv10938895, essv10938908, essv10938900, essv10938909, essv10938903, essv10938904, essv10938897
SamplesNA19399, HG02798, HG02870, HG02804, NA19107, NA19307, HG02541, HG03209, NA19024, HG03048, HG02716, HG03159, HG03388, HG02807, NA19435, HG01958, HG02611, HG01577, HG04140, HG03066, HG03049
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595405
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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