A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667841



Internal ID2900928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162116288..162116865hg38UCSC Ensembl
chr5:161543294..161543871hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6046242, essv5950974, essv5697852, essv5980440, essv5668708, essv5804689, essv6074697, essv6596981
SamplesNA18870, NA19467, NA19428, NA19900, NA19429, NA19190, NA19380, NA19172
Known GenesGABRG2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667841
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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