A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630627



Internal ID7017443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104192667..104204110hg38UCSC Ensembl
Innerchr12:104193167..104203610hg38UCSC Ensembl
Outerchr12:104191667..104205110hg38UCSC Ensembl
chr12:104586445..104597888hg19UCSC Ensembl
Innerchr12:104586945..104597388hg19UCSC Ensembl
Outerchr12:104585445..104598888hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811444
hg1911444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv300e214
Supporting Variantsessv14596810, essv14596809
SamplesNA20894, HG01976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630627
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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