A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678557



Internal ID9597976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39582393..39587676hg38UCSC Ensembl
chr4:39584013..39589296hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg385284
hg195284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6033482, essv6117282
SamplesNA19236, NA18522
Known GenesMIR1273H, SMIM14, UGDH-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678557
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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