A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669625



Internal ID9935730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58055423..58068241hg38UCSC Ensembl
chr4:58921589..58934407hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812819
hg1912819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6068605, essv5463414
SamplesNA20539, NA20518
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669625
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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