A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630084



Internal ID7016904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79722545..79726647hg38UCSC Ensembl
Innerchr12:79722545..79726647hg38UCSC Ensembl
Outerchr12:79722045..79727147hg38UCSC Ensembl
chr12:80116325..80120427hg19UCSC Ensembl
Innerchr12:80116325..80120427hg19UCSC Ensembl
Outerchr12:80115825..80120927hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384103
hg194103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14546444, essv14546442, essv14546443, essv14546445
SamplesNA19027, NA19338, NA19434, NA19316
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630084
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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