A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585885



Internal ID6626199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44413772..44417085hg38UCSC Ensembl
chr1:44879444..44882757hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383314
hg193314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9924661, essv9924659, essv9924662, essv9924657, essv9924658, essv9924663, essv9924656, essv9924660, essv9924664
SamplesHG01776, NA20503, HG00171, NA19652, HG01414, HG00180, NA20822, HG01356, HG01710
Known GenesRNF220
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585885
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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