A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608532



Internal ID6648769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31163674..31304530hg38UCSC Ensembl
chr6:31131451..31272307hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38140857
hg19140857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12254280, essv12254279
SamplesHG01880, HG01915
Known GenesHCG27, HLA-C, POU5F1, PSORS1C3, TCF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608532
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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