A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv377e199



Internal ID22758150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100553144..100556535hg38UCSC Ensembl
chr13:101205398..101208789hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383392
hg193392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2672414, esv2674698
SamplesHG00671, NA19088, NA19059, HG00580, NA18984
Known GenesGGACT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv377e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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