A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663444



Internal ID9929549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54203713..54205878hg38UCSC Ensembl
chr4:55069880..55072045hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382166
hg192166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042300, essv6374224, essv5696480, essv5891674
SamplesHG00318, HG00311, NA06984, HG01204
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663444
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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