A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629335



Internal ID7016157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42774054..42781706hg38UCSC Ensembl
Innerchr12:42774073..42781688hg38UCSC Ensembl
Outerchr12:42774036..42781725hg38UCSC Ensembl
chr12:43167856..43175508hg19UCSC Ensembl
Innerchr12:43167875..43175490hg19UCSC Ensembl
Outerchr12:43167838..43175527hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387653
hg197653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14460400, essv14460399, essv14460401
SamplesHG00142, HG00179, HG00360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629335
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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