A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599203



Internal ID6986251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194515349..194551319hg38UCSC Ensembl
Innerchr3:194515499..194551169hg38UCSC Ensembl
Outerchr3:194515199..194551469hg38UCSC Ensembl
chr3:194236078..194272048hg19UCSC Ensembl
Innerchr3:194236228..194271898hg19UCSC Ensembl
Outerchr3:194235928..194272198hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3835971
hg1935971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11283946, essv11283954, essv11283950, essv11283948, essv11283949, essv11283947, essv11283951, essv11283952, essv11283955, essv11283953
SamplesNA21089, HG03905, HG03978, HG03061, HG01845, HG04118, HG02179, NA20902, NA20847, NA21102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599203
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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