A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669431



Internal ID9588850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42635875..42644164hg38UCSC Ensembl
chr5:42635977..42644266hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388290
hg198290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5667641
SamplesNA19463
Known GenesGHR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669431
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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