A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv731e199



Internal ID20124033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130678437..131300107hg38UCSC Ensembl
chr2:131436010..132057680hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38621671
hg19621671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2665334, esv2663589
SamplesHG01354, NA18873
Known GenesAMER3, ARHGEF4, CYP4F30P, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv731e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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