A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv680e214



Internal ID22756574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29309924..29462782hg38UCSC Ensembl
chr2:29532790..29685648hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38152859
hg19152859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590172, esv3590170
SamplesHG01798
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv680e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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