A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630145



Internal ID7016964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81891508..81918689hg38UCSC Ensembl
Innerchr12:81891508..81918689hg38UCSC Ensembl
Outerchr12:81891008..81919189hg38UCSC Ensembl
chr12:82285287..82312468hg19UCSC Ensembl
Innerchr12:82285287..82312468hg19UCSC Ensembl
Outerchr12:82284787..82312968hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3827182
hg1927182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14550979, essv14550978, essv14550980
SamplesHG04229, NA20845, HG01617
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630145
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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