A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11838789



Internal ID5944821
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604335
Supporting Variants
SamplesNA19355
Known GenesCDH12, PMCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11838789
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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