A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629847



Internal ID7016668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68398002..68403123hg38UCSC Ensembl
Innerchr12:68398002..68403123hg38UCSC Ensembl
Outerchr12:68397608..68403514hg38UCSC Ensembl
chr12:68791782..68796903hg19UCSC Ensembl
Innerchr12:68791782..68796903hg19UCSC Ensembl
Outerchr12:68791388..68797294hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385122
hg195122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14520126
SamplesNA18559
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629847
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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