A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666829



Internal ID9586248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168698305..168700077hg38UCSC Ensembl
chr4:169619456..169621228hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381773
hg191773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6247435, essv5846581, essv5561727, essv5804741, essv6115795, essv5654055, essv6365814
SamplesNA19012, NA18628, HG00443, HG00650, NA18560, HG00580, HG00566
Known GenesPALLD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666829
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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