A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658500



Internal ID9577919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9544084..9548442hg38UCSC Ensembl
Outerchr1:9543927..9548595hg38UCSC Ensembl
Innerchr1:9604142..9608500hg19UCSC Ensembl
Outerchr1:9603985..9608653hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384669
hg194669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5603879
SamplesNA19725
Known GenesSLC25A33
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658500
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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