A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11352469



Internal ID1354285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:10029051..10125617hg38UCSC Ensembl
chr4:10030675..10127241hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3896567
hg1996567
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599598
Supporting Variants
SamplesHG03965
Known GenesMIR3138, SLC2A9, WDR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11352469
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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