A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565384



Internal ID5887626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137046593..137100086hg38UCSC Ensembl
chr6:137367730..137421223hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3853494
hg1953494
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610934
Supporting Variants
SamplesNA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565384
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