A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595933



Internal ID6983251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39643940..39648017hg38UCSC Ensembl
Innerchr3:39643960..39647998hg38UCSC Ensembl
Outerchr3:39643921..39648037hg38UCSC Ensembl
chr3:39685431..39689508hg19UCSC Ensembl
Innerchr3:39685451..39689489hg19UCSC Ensembl
Outerchr3:39685412..39689528hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg384078
hg194078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10987879, essv10987872, essv10987867, essv10987868, essv10987877, essv10987866, essv10987871, essv10987880, essv10987870, essv10987873, essv10987874, essv10987878, essv10987875, essv10987876, essv10987869
SamplesHG04202, HG03792, HG03645, HG03937, HG02687, HG03604, NA21108, HG03693, HG03007, HG04195, HG04019, NA20901, HG03694, HG04227, HG04198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595933
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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