A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588051



Internal ID6628351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179391717..179420728hg38UCSC Ensembl
chr1:179360852..179389863hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3829012
hg1929012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10197253
SamplesHG01678
Known GenesAXDND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588051
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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