A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv743e214



Internal ID22756637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148245846..148259034hg38UCSC Ensembl
chr2:149003415..149016603hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3813189
hg1913189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3592838, esv3592837
SamplesHG03593
Known GenesMBD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv743e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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