A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6117282



Internal ID9599622
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 Flag1
Merged StatusS
Merged Variantsesv2678557
Supporting Variants
SamplesNA19236
Known GenesMIR1273H, SMIM14, UGDH-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6117282
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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