A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630668



Internal ID7017483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105477380..105483499hg38UCSC Ensembl
Innerchr12:105477411..105483468hg38UCSC Ensembl
Outerchr12:105477349..105483530hg38UCSC Ensembl
chr12:105871158..105877277hg19UCSC Ensembl
Innerchr12:105871189..105877246hg19UCSC Ensembl
Outerchr12:105871127..105877308hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14601524
SamplesHG03692
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630668
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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