A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv732e199



Internal ID20124034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132422228..132423426hg38UCSC Ensembl
chr2:133179801..133180999hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663222, esv2658002
SamplesNA18486, NA18504, NA19381, NA18516, NA19147, NA19679, NA19439, NA18873
Known GenesGPR39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv732e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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