A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659030



Internal ID9925135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56473477..56473872hg38UCSC Ensembl
chr8:57386036..57386431hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5863289, essv6013921, essv6345851
SamplesNA19138, NA19384, NA19917
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659030
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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