A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603517



Internal ID6990548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186008703..186213065hg38UCSC Ensembl
Innerchr4:186008853..186212915hg38UCSC Ensembl
Outerchr4:186008553..186213215hg38UCSC Ensembl
chr4:186929857..187134219hg19UCSC Ensembl
Innerchr4:186930007..187134069hg19UCSC Ensembl
Outerchr4:186929707..187134369hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38204363
hg19204363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11741716, essv11741710, essv11741712, essv11741713, essv11741718, essv11741714, essv11741711, essv11741715, essv11741719, essv11741717
SamplesHG03731, HG02727, HG04156, HG04183, HG03771, HG04180, HG03781, HG03951, NA20847, HG03864
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603517
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