A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585950



Internal ID6626264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47041399..47059569hg38UCSC Ensembl
chr1:47507071..47525241hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3818171
hg1918171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926534, essv9926532, essv9926522, essv9926528, essv9926533, essv9926527, essv9926526, essv9926524, essv9926525, essv9926529, essv9926530, essv9926531, essv9926523
SamplesHG04001, HG01176, HG02104, HG01967, HG01200, NA20524, HG01948, HG01047, HG03631, HG01101, HG01700, HG00136, HG03955
Known GenesCYP4X1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585950
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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