A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589044



Internal ID6976461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228018879..228026998hg38UCSC Ensembl
Innerchr1:228018908..228026970hg38UCSC Ensembl
Outerchr1:228018851..228027027hg38UCSC Ensembl
chr1:228206580..228214699hg19UCSC Ensembl
Innerchr1:228206609..228214671hg19UCSC Ensembl
Outerchr1:228206552..228214728hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388120
hg198120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e214
Supporting Variantsessv10312409
SamplesHG00674
Known GenesWNT3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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