A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv60e214



Internal ID22755954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173335416..173338895hg38UCSC Ensembl
chr1:173304555..173308034hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3587942, esv3587941
SamplesHG03629, NA20906, NA20897, HG03985, HG01583
Known GenesLOC100506023
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv60e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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