A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10344733



Internal ID5130965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239811336..239953758hg38UCSC Ensembl
chr1:239974636..240117058hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38142423
hg19142423
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589285
Supporting Variants
SamplesNA18566
Known GenesCHRM3, CHRM3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10344733
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