A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv724e199



Internal ID20124026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107883507..108515482hg38UCSC Ensembl
chr2:108499963..109131938hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38631976
hg19631976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2664502, esv2672012
SamplesNA18985, NA19012
Known GenesGCC2, RGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv724e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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