A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630308



Internal ID7017127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88935375..88936938hg38UCSC Ensembl
Innerchr12:88935378..88936936hg38UCSC Ensembl
Outerchr12:88935373..88936941hg38UCSC Ensembl
chr12:89329152..89330715hg19UCSC Ensembl
Innerchr12:89329155..89330713hg19UCSC Ensembl
Outerchr12:89329150..89330718hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381564
hg191564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565577
SamplesHG02570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630308
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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