A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv743e199



Internal ID22758516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160307715..160310895hg38UCSC Ensembl
chr2:161164226..161167406hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg383181
hg193181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674600, esv2662924
SamplesNA19701
Known GenesRBMS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv743e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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