A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630385



Internal ID7017204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92620151..92621968hg38UCSC Ensembl
Innerchr12:92620201..92621918hg38UCSC Ensembl
Outerchr12:92620101..92622018hg38UCSC Ensembl
chr12:93013927..93015744hg19UCSC Ensembl
Innerchr12:93013977..93015694hg19UCSC Ensembl
Outerchr12:93013877..93015794hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381818
hg191818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14570244, essv14570243, essv14570245
SamplesNA20863, NA21109, NA21090
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630385
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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