A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601744



Internal ID6988780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109464424..109468707hg38UCSC Ensembl
Innerchr4:109464424..109468707hg38UCSC Ensembl
Outerchr4:109464153..109468993hg38UCSC Ensembl
chr4:110385580..110389863hg19UCSC Ensembl
Innerchr4:110385580..110389863hg19UCSC Ensembl
Outerchr4:110385309..110390149hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384284
hg194284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11560860, essv11560859, essv11560861, essv11560862
SamplesHG00693, HG03826, HG02389, HG00182
Known GenesSEC24B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601744
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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