A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14565577



Internal ID2899236
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630308
Supporting Variants
SamplesHG02570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14565577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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