A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14624639



Internal ID4661105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125805658..125807166hg38UCSC Ensembl
Innerchr12:125805676..125807148hg38UCSC Ensembl
Outerchr12:125805640..125807184hg38UCSC Ensembl
chr12:126290204..126291712hg19UCSC Ensembl
Innerchr12:126290222..126291694hg19UCSC Ensembl
Outerchr12:126290186..126291730hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381509
hg191509
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631045
Supporting Variants
SamplesHG04188
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14624639
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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