A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631045



Internal ID7017860
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14624639
SamplesHG04188
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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