A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12050694



Internal ID2052510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126424914..126763280hg38UCSC Ensembl
Innerchr5:126425064..126763130hg38UCSC Ensembl
Outerchr5:126424764..126763430hg38UCSC Ensembl
chr5:125760606..126098972hg19UCSC Ensembl
Innerchr5:125760756..126098822hg19UCSC Ensembl
Outerchr5:125760456..126099122hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38338367
hg19338367
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606679
Supporting Variants
SamplesNA20758
Known GenesALDH7A1, C5orf48, GRAMD3, PHAX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12050694
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