A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628288



Internal ID6668431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1626341..1628231hg38UCSC Ensembl
Innerchr12:1626367..1628206hg38UCSC Ensembl
Outerchr12:1626316..1628257hg38UCSC Ensembl
chr12:1735507..1737397hg19UCSC Ensembl
Innerchr12:1735533..1737372hg19UCSC Ensembl
Outerchr12:1735482..1737423hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381891
hg191891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14334655
SamplesHG04144
Known GenesWNT5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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