A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663118



Internal ID9929223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82992877..82998251hg38UCSC Ensembl
Outerchr4:82992720..82998404hg38UCSC Ensembl
Innerchr4:83914030..83919404hg19UCSC Ensembl
Outerchr4:83913873..83919557hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg385685
hg195685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5986998, essv6053197, essv6557388, essv5532901, essv6511010, essv6274688, essv5563314, essv5855411
SamplesNA20774, NA19717, NA20534, NA20804, NA20504, NA20544, NA19726, HG00553
Known GenesLIN54
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663118
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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