A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3e214



Internal ID22755897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3940467..4087157hg38UCSC Ensembl
chr1:4000527..4147217hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38146691
hg19146691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585055, esv3585056
SamplesHG02481, NA20872
Known GenesLOC728716
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv3e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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