A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672331



Internal ID9938436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39537546..39538246hg38UCSC Ensembl
chr4:39539166..39539866hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5960682, essv5634438, essv6460065, essv5427470, essv5499243, essv6068803, essv5876040, essv6043977
SamplesHG01462, HG00122, HG01515, HG00273, HG00126, NA12716, HG00136, HG00116
Known GenesMIR1273H, UGDH-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672331
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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