A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610775



Internal ID6997692
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12546200, essv12546201, essv12546203, essv12546202
SamplesHG02250, HG03873, HG01796, HG03998
Known GenesARHGAP18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610775
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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