A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11590645



Internal ID1592461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121811764..121818497hg38UCSC Ensembl
chr4:122732919..122739652hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg386734
hg196734
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602016
Supporting Variants
SamplesHG01936
Known GenesCCNA2, EXOSC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11590645
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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