A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674449



Internal ID9593868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145132055..145132598hg38UCSC Ensembl
chr4:146053207..146053750hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6119380, essv6427341, essv5967257, essv6039882, essv6083352, essv5521056
SamplesNA19359, NA19317, NA19452, NA19395, NA19316, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674449
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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