A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12496762



Internal ID2498578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104874542..105072035hg38UCSC Ensembl
chr6:105322417..105519910hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38197494
hg19197494
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610248
Supporting Variants
SamplesNA11881
Known GenesLIN28B, LINC00577
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12496762
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