A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589042



Internal ID6976459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228018807..228026791hg38UCSC Ensembl
chr1:228206508..228214492hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387985
hg197985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e214
Supporting Variantsessv10312407
SamplesHG00674
Known GenesWNT3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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