A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12082182



Internal ID2124979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142883544..143067497hg38UCSC Ensembl
chr5:142263109..142447062hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38183954
hg19183954
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607012
Supporting Variants
SamplesHG01932
Known GenesARHGAP26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12082182
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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