A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665070



Internal ID9584489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:50063023..50076208hg38UCSC Ensembl
Outerchr1:50062986..50076258hg38UCSC Ensembl
Innerchr1:50528695..50541880hg19UCSC Ensembl
Outerchr1:50528658..50541930hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3813273
hg1913273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5415640
SamplesNA18555
Known GenesELAVL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665070
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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