A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5947985



Internal ID8950507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27160889..27165109hg38UCSC Ensembl
Outerchr1:27160852..27165159hg38UCSC Ensembl
Innerchr1:27487380..27491600hg19UCSC Ensembl
Outerchr1:27487343..27491650hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384308
hg194308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666973
Supporting Variants
SamplesHG00500
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5947985
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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