A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12546202



Internal ID4330691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129659196..129742254hg38UCSC Ensembl
chr6:129980341..130063399hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3883059
hg1983059
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610775
Supporting Variants
SamplesHG03873
Known GenesARHGAP18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12546202
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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