A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674125



Internal ID9940230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32085459..32087296hg38UCSC Ensembl
Outerchr1:32085422..32087346hg38UCSC Ensembl
Innerchr1:32551060..32552897hg19UCSC Ensembl
Outerchr1:32551023..32552947hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381925
hg191925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5485947
SamplesHG01073
Known GenesTMEM39B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674125
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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