A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12082077



Internal ID4549701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142795354..142880786hg38UCSC Ensembl
chr5:142174919..142260351hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3885433
hg1985433
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607010
Supporting Variants
SamplesHG04047
Known GenesARHGAP26, ARHGAP26-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12082077
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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