A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628243



Internal ID6668386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:476844..484573hg38UCSC Ensembl
Innerchr12:476897..484520hg38UCSC Ensembl
Outerchr12:476791..484626hg38UCSC Ensembl
chr12:586010..593739hg19UCSC Ensembl
Innerchr12:586063..593686hg19UCSC Ensembl
Outerchr12:585957..593792hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387730
hg197730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329784
SamplesHG03193
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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