A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674626



Internal ID9940731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232716680..232716977hg38UCSC Ensembl
Outerchr1:232716523..232717137hg38UCSC Ensembl
Innerchr1:232852426..232852723hg19UCSC Ensembl
Outerchr1:232852269..232852883hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5559209, essv6062673, essv5695390, essv5762587, essv6508951
SamplesHG00608, NA18592, HG00689, HG00557, NA19083
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674626
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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