A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599227



Internal ID6986275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194990085..194993601hg38UCSC Ensembl
Innerchr3:194990085..194993601hg38UCSC Ensembl
Outerchr3:194989767..194993848hg38UCSC Ensembl
chr3:194710814..194714330hg19UCSC Ensembl
Innerchr3:194710814..194714330hg19UCSC Ensembl
Outerchr3:194710496..194714577hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11287461, essv11287463, essv11287458, essv11287459, essv11287464, essv11287460, essv11287465, essv11287462
SamplesNA11920, HG00330, NA12282, NA20775, HG00266, HG00366, HG01620, HG00345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599227
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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