A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600397



Internal ID6987440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44955239..44977715hg38UCSC Ensembl
chr4:44957256..44979732hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3822477
hg1922477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11421344, essv11421348, essv11421345, essv11421346, essv11421349, essv11421343, essv11421347, essv11421342
SamplesHG00330, HG03868, HG00281, NA10847, NA19658, HG01708, NA11881, NA20827
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600397
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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