A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604335



Internal ID6991365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:22126938..22247190hg38UCSC Ensembl
chr5:22127047..22247299hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38120253
hg19120253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11838789, essv11838788, essv11838790
SamplesNA19355, NA19443, HG01804
Known GenesCDH12, PMCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604335
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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