A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666673



Internal ID9932778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:151167088..151168935hg38UCSC Ensembl
Outerchr4:151166931..151169088hg38UCSC Ensembl
Innerchr4:152088240..152090087hg19UCSC Ensembl
Outerchr4:152088083..152090240hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382158
hg192158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6530201, essv5927248, essv5401277
SamplesNA20515, HG00154, NA20510
Known GenesSH3D19
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666673
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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