A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv689e199



Internal ID20123991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30589882..30627418hg38UCSC Ensembl
chr2:30812748..30850284hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3837537
hg1937537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656693, esv2674685
SamplesHG00133
Known GenesLCLAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv689e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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