A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12082116



Internal ID2083932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142795354..142880786hg38UCSC Ensembl
chr5:142174919..142260351hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3885433
hg1985433
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607011
Supporting Variants
SamplesHG03837
Known GenesARHGAP26, ARHGAP26-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12082116
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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